Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-03-03

AUTHORS

Hong Joo Kim, Nam Chul Kim, Yong-Dong Wang, Emily A. Scarborough, Jennifer Moore, Zamia Diaz, Kyle S. MacLea, Brian Freibaum, Songqing Li, Amandine Molliex, Anderson P. Kanagaraj, Robert Carter, Kevin B. Boylan, Aleksandra M. Wojtas, Rosa Rademakers, Jack L. Pinkus, Steven A. Greenberg, John Q. Trojanowski, Bryan J. Traynor, Bradley N. Smith, Simon Topp, Athina-Soragia Gkazi, Jack Miller, Christopher E. Shaw, Michael Kottlors, Janbernd Kirschner, Alan Pestronk, Yun R. Li, Alice Flynn Ford, Aaron D. Gitler, Michael Benatar, Oliver D. King, Virginia E. Kimonis, Eric D. Ross, Conrad C. Weihl, James Shorter, J. Paul Taylor

ABSTRACT

Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with neurodegenerative disease, harbour a distinctive prion-like domain (PrLD) enriched in uncharged polar amino acids and glycine. PrLDs in RNA-binding proteins are essential for the assembly of ribonucleoprotein granules. However, the interplay between human PrLD function and disease is not understood. Here we define pathogenic mutations in PrLDs of heterogeneous nuclear ribonucleoproteins (hnRNPs) A2B1 and A1 in families with inherited degeneration affecting muscle, brain, motor neuron and bone, and in one case of familial amyotrophic lateral sclerosis. Wild-type hnRNPA2 (the most abundant isoform of hnRNPA2B1) and hnRNPA1 show an intrinsic tendency to assemble into self-seeding fibrils, which is exacerbated by the disease mutations. Indeed, the pathogenic mutations strengthen a ‘steric zipper’ motif in the PrLD, which accelerates the formation of self-seeding fibrils that cross-seed polymerization of wild-type hnRNP. Notably, the disease mutations promote excess incorporation of hnRNPA2 and hnRNPA1 into stress granules and drive the formation of cytoplasmic inclusions in animal models that recapitulate the human pathology. Thus, dysregulated polymerization caused by a potent mutant steric zipper motif in a PrLD can initiate degenerative disease. Related proteins with PrLDs should therefore be considered candidates for initiating and perhaps propagating proteinopathies of muscle, brain, motor neuron and bone. More... »

PAGES

467-473

Journal

TITLE

Nature

ISSUE

7442

VOLUME

495

Author Affiliations

  • Department of Developmental Neurobiology, St Jude Children’s Research Hospital, 38120, Memphis, Tennessee, USA
  • Hartwell Center for Bioinformatics and Biotechnology, St Jude Children’s Research Hospital, 38120, Memphis, Tennessee, USA
  • Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA
  • Department of Biochemistry and Molecular Biology, Colorado State University, 80523, Fort Collins, Colorado, USA
  • Department of Computational Biology, St Jude Children’s Research Hospital, 38120, Memphis, Tennessee, USA
  • Department of Neuroscience, Mayo Clinic, 32224, Jacksonville, Florida, USA
  • Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, 02115, Boston, Massachusetts, USA
  • Department of Pathology and Laboratory Medicine, Institute on Aging and Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA
  • Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, Porter Neuroscience Building, National Institute on Aging, National Institutes of Health, 20892, Bethesda, Maryland, USA
  • Department of Clinical Neuroscience, King’s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK
  • Division of Neuropediatrics and Muscle Disorders, University Children’s Hospital Freiburg, 79106 Freiburg, Germany
  • Department of Neurology, Washington University School of Medicine, 63110, Saint Louis, Missouri, USA
  • Medical Scientist Training Program, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA
  • Department of Genetics, Stanford University School of Medicine, 94305, Stanford, California, USA
  • Neurology Department, University of Miami Miller School of Medicine, 33136, Miami, Florida, USA
  • Boston Biomedical Research Institute, 02472, Watertown, Massachusetts, USA
  • Department of Pediatrics, Division of Genetics and Metabolism, University of California-Irvine, 2501 Hewitt Hall, Irvine, California 92696, USA
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature11922

    DOI

    http://dx.doi.org/10.1038/nature11922

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1037021180

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23455423


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0601", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biochemistry and Cell Biology", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Neurosciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Amino Acid Sequence", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Amyotrophic Lateral Sclerosis", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Animals", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Drosophila melanogaster", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Frontotemporal Dementia", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "HeLa Cells", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Heterogeneous-Nuclear Ribonucleoprotein Group A-B", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Inclusion Bodies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mice", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Molecular Sequence Data", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Muscular Dystrophies, Limb-Girdle", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutant Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Myositis, Inclusion Body", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Osteitis Deformans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Peptide Termination Factors", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Prions", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Protein Structure, Tertiary", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "RNA", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Saccharomyces cerevisiae Proteins", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kim", 
            "givenName": "Hong Joo", 
            "id": "sg:person.01176644355.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176644355.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kim", 
            "givenName": "Nam Chul", 
            "id": "sg:person.01127334262.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127334262.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hartwell Center for Bioinformatics and Biotechnology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Hartwell Center for Bioinformatics and Biotechnology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wang", 
            "givenName": "Yong-Dong", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA", 
              "id": "http://www.grid.ac/institutes/grid.25879.31", 
              "name": [
                "Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Scarborough", 
            "givenName": "Emily A.", 
            "id": "sg:person.01052535702.65", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052535702.65"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Moore", 
            "givenName": "Jennifer", 
            "id": "sg:person.01201310562.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201310562.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA", 
              "id": "http://www.grid.ac/institutes/grid.25879.31", 
              "name": [
                "Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Diaz", 
            "givenName": "Zamia", 
            "id": "sg:person.01165040350.56", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165040350.56"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biochemistry and Molecular Biology, Colorado State University, 80523, Fort Collins, Colorado, USA", 
              "id": "http://www.grid.ac/institutes/grid.47894.36", 
              "name": [
                "Department of Biochemistry and Molecular Biology, Colorado State University, 80523, Fort Collins, Colorado, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "MacLea", 
            "givenName": "Kyle S.", 
            "id": "sg:person.01055662734.77", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055662734.77"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Freibaum", 
            "givenName": "Brian", 
            "id": "sg:person.01036663113.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036663113.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Li", 
            "givenName": "Songqing", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Molliex", 
            "givenName": "Amandine", 
            "id": "sg:person.01002107304.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002107304.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kanagaraj", 
            "givenName": "Anderson P.", 
            "id": "sg:person.0653164337.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653164337.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Computational Biology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Department of Computational Biology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Carter", 
            "givenName": "Robert", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neuroscience, Mayo Clinic, 32224, Jacksonville, Florida, USA", 
              "id": "http://www.grid.ac/institutes/grid.417467.7", 
              "name": [
                "Department of Neuroscience, Mayo Clinic, 32224, Jacksonville, Florida, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Boylan", 
            "givenName": "Kevin B.", 
            "id": "sg:person.01016121034.80", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01016121034.80"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neuroscience, Mayo Clinic, 32224, Jacksonville, Florida, USA", 
              "id": "http://www.grid.ac/institutes/grid.417467.7", 
              "name": [
                "Department of Neuroscience, Mayo Clinic, 32224, Jacksonville, Florida, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wojtas", 
            "givenName": "Aleksandra M.", 
            "id": "sg:person.01015313604.68", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01015313604.68"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neuroscience, Mayo Clinic, 32224, Jacksonville, Florida, USA", 
              "id": "http://www.grid.ac/institutes/grid.417467.7", 
              "name": [
                "Department of Neuroscience, Mayo Clinic, 32224, Jacksonville, Florida, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rademakers", 
            "givenName": "Rosa", 
            "id": "sg:person.01370327406.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370327406.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Brigham and Women\u2019s Hospital, Harvard Medical School, 02115, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.62560.37", 
              "name": [
                "Department of Neurology, Brigham and Women\u2019s Hospital, Harvard Medical School, 02115, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pinkus", 
            "givenName": "Jack L.", 
            "id": "sg:person.0644704467.27", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644704467.27"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Brigham and Women\u2019s Hospital, Harvard Medical School, 02115, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.62560.37", 
              "name": [
                "Department of Neurology, Brigham and Women\u2019s Hospital, Harvard Medical School, 02115, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Greenberg", 
            "givenName": "Steven A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pathology and Laboratory Medicine, Institute on Aging and Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA", 
              "id": "http://www.grid.ac/institutes/grid.25879.31", 
              "name": [
                "Department of Pathology and Laboratory Medicine, Institute on Aging and Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Trojanowski", 
            "givenName": "John Q.", 
            "id": "sg:person.01043025611.21", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043025611.21"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, Porter Neuroscience Building, National Institute on Aging, National Institutes of Health, 20892, Bethesda, Maryland, USA", 
              "id": "http://www.grid.ac/institutes/grid.94365.3d", 
              "name": [
                "Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, Porter Neuroscience Building, National Institute on Aging, National Institutes of Health, 20892, Bethesda, Maryland, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Traynor", 
            "givenName": "Bryan J.", 
            "id": "sg:person.0651415272.99", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651415272.99"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pathology and Laboratory Medicine, Institute on Aging and Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA", 
              "id": "http://www.grid.ac/institutes/grid.25879.31", 
              "name": [
                "Department of Pathology and Laboratory Medicine, Institute on Aging and Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Smith", 
            "givenName": "Bradley N.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Clinical Neuroscience, King\u2019s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK", 
              "id": "http://www.grid.ac/institutes/grid.13097.3c", 
              "name": [
                "Department of Clinical Neuroscience, King\u2019s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Topp", 
            "givenName": "Simon", 
            "id": "sg:person.01224543341.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224543341.26"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Clinical Neuroscience, King\u2019s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK", 
              "id": "http://www.grid.ac/institutes/grid.13097.3c", 
              "name": [
                "Department of Clinical Neuroscience, King\u2019s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gkazi", 
            "givenName": "Athina-Soragia", 
            "id": "sg:person.01123524205.63", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123524205.63"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Clinical Neuroscience, King\u2019s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK", 
              "id": "http://www.grid.ac/institutes/grid.13097.3c", 
              "name": [
                "Department of Clinical Neuroscience, King\u2019s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Miller", 
            "givenName": "Jack", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Clinical Neuroscience, King\u2019s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK", 
              "id": "http://www.grid.ac/institutes/grid.13097.3c", 
              "name": [
                "Department of Clinical Neuroscience, King\u2019s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Shaw", 
            "givenName": "Christopher E.", 
            "id": "sg:person.015122554672.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015122554672.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Division of Neuropediatrics and Muscle Disorders, University Children\u2019s Hospital Freiburg, 79106 Freiburg, Germany", 
              "id": "http://www.grid.ac/institutes/grid.7708.8", 
              "name": [
                "Division of Neuropediatrics and Muscle Disorders, University Children\u2019s Hospital Freiburg, 79106 Freiburg, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kottlors", 
            "givenName": "Michael", 
            "id": "sg:person.01234254520.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234254520.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Division of Neuropediatrics and Muscle Disorders, University Children\u2019s Hospital Freiburg, 79106 Freiburg, Germany", 
              "id": "http://www.grid.ac/institutes/grid.7708.8", 
              "name": [
                "Division of Neuropediatrics and Muscle Disorders, University Children\u2019s Hospital Freiburg, 79106 Freiburg, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kirschner", 
            "givenName": "Janbernd", 
            "id": "sg:person.0717435623.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717435623.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Washington University School of Medicine, 63110, Saint Louis, Missouri, USA", 
              "id": "http://www.grid.ac/institutes/grid.4367.6", 
              "name": [
                "Department of Neurology, Washington University School of Medicine, 63110, Saint Louis, Missouri, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pestronk", 
            "givenName": "Alan", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Scientist Training Program, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA", 
              "id": "http://www.grid.ac/institutes/grid.25879.31", 
              "name": [
                "Medical Scientist Training Program, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Li", 
            "givenName": "Yun R.", 
            "id": "sg:person.01004153144.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004153144.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA", 
              "id": "http://www.grid.ac/institutes/grid.25879.31", 
              "name": [
                "Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ford", 
            "givenName": "Alice Flynn", 
            "id": "sg:person.0637134562.09", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637134562.09"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics, Stanford University School of Medicine, 94305, Stanford, California, USA", 
              "id": "http://www.grid.ac/institutes/grid.168010.e", 
              "name": [
                "Department of Genetics, Stanford University School of Medicine, 94305, Stanford, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gitler", 
            "givenName": "Aaron D.", 
            "id": "sg:person.01046446465.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01046446465.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Neurology Department, University of Miami Miller School of Medicine, 33136, Miami, Florida, USA", 
              "id": "http://www.grid.ac/institutes/grid.26790.3a", 
              "name": [
                "Neurology Department, University of Miami Miller School of Medicine, 33136, Miami, Florida, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Benatar", 
            "givenName": "Michael", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Boston Biomedical Research Institute, 02472, Watertown, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.280432.f", 
              "name": [
                "Boston Biomedical Research Institute, 02472, Watertown, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "King", 
            "givenName": "Oliver D.", 
            "id": "sg:person.01241430423.21", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241430423.21"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, Division of Genetics and Metabolism, University of California-Irvine, 2501 Hewitt Hall, Irvine, California 92696, USA", 
              "id": "http://www.grid.ac/institutes/grid.266093.8", 
              "name": [
                "Department of Pediatrics, Division of Genetics and Metabolism, University of California-Irvine, 2501 Hewitt Hall, Irvine, California 92696, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kimonis", 
            "givenName": "Virginia E.", 
            "id": "sg:person.01011236005.03", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01011236005.03"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biochemistry and Molecular Biology, Colorado State University, 80523, Fort Collins, Colorado, USA", 
              "id": "http://www.grid.ac/institutes/grid.47894.36", 
              "name": [
                "Department of Biochemistry and Molecular Biology, Colorado State University, 80523, Fort Collins, Colorado, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ross", 
            "givenName": "Eric D.", 
            "id": "sg:person.01241145525.69", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241145525.69"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Washington University School of Medicine, 63110, Saint Louis, Missouri, USA", 
              "id": "http://www.grid.ac/institutes/grid.4367.6", 
              "name": [
                "Department of Neurology, Washington University School of Medicine, 63110, Saint Louis, Missouri, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Weihl", 
            "givenName": "Conrad C.", 
            "id": "sg:person.0577617115.87", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577617115.87"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA", 
              "id": "http://www.grid.ac/institutes/grid.25879.31", 
              "name": [
                "Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Shorter", 
            "givenName": "James", 
            "id": "sg:person.01235077502.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235077502.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA", 
              "id": "http://www.grid.ac/institutes/grid.240871.8", 
              "name": [
                "Department of Developmental Neurobiology, St Jude Children\u2019s Research Hospital, 38120, Memphis, Tennessee, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Taylor", 
            "givenName": "J. Paul", 
            "id": "sg:person.013436160257.94", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013436160257.94"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1186/1750-1326-7-56", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038751873", 
              "https://doi.org/10.1186/1750-1326-7-56"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-1-59745-251-9_3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018752572", 
              "https://doi.org/10.1007/978-1-59745-251-9_3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12031-011-9627-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043240937", 
              "https://doi.org/10.1007/s12031-011-9627-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1332", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041421858", 
              "https://doi.org/10.1038/ng1332"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2013-03-03", 
        "datePublishedReg": "2013-03-03", 
        "description": "Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with neurodegenerative disease, harbour a distinctive prion-like domain (PrLD) enriched in uncharged polar amino acids and glycine. PrLDs in RNA-binding proteins are essential for the assembly of ribonucleoprotein granules. However, the interplay between human PrLD function and disease is not understood. Here we define pathogenic mutations in PrLDs of heterogeneous nuclear ribonucleoproteins (hnRNPs) A2B1 and A1 in families with inherited degeneration affecting muscle, brain, motor neuron and bone, and in one case of familial amyotrophic lateral sclerosis. Wild-type hnRNPA2 (the most abundant isoform of hnRNPA2B1) and hnRNPA1 show an intrinsic tendency to assemble into self-seeding fibrils, which is exacerbated by the disease mutations. Indeed, the pathogenic mutations strengthen a \u2018steric zipper\u2019 motif in the PrLD, which accelerates the formation of self-seeding fibrils that cross-seed polymerization of wild-type hnRNP. Notably, the disease mutations promote excess incorporation of hnRNPA2 and hnRNPA1 into stress granules and drive the formation of cytoplasmic inclusions in animal models that recapitulate the human pathology. Thus, dysregulated polymerization caused by a potent mutant steric zipper motif in a PrLD can initiate degenerative disease. Related proteins with PrLDs should therefore be considered candidates for initiating and perhaps propagating proteinopathies of muscle, brain, motor neuron and bone.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/nature11922", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2561589", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2405872", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2759579", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2617738", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2355250", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3116644", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2722925", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2448404", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2434811", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2780245", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3637675", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1018957", 
            "issn": [
              "0028-0836", 
              "1476-4687"
            ], 
            "name": "Nature", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "7442", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "495"
          }
        ], 
        "keywords": [
          "heterogeneous nuclear ribonucleoproteins", 
          "prion-like domains", 
          "disease mutations", 
          "uncharged polar amino acids", 
          "RNA-binding protein", 
          "polar amino acids", 
          "pathogenic mutations", 
          "yeast prions", 
          "ribonucleoprotein granules", 
          "stress granules", 
          "zipper motif", 
          "steric zipper motif", 
          "human proteins", 
          "nuclear ribonucleoprotein", 
          "related proteins", 
          "PrLDs", 
          "familial amyotrophic lateral sclerosis", 
          "human pathologies", 
          "amino acids", 
          "motor neurons", 
          "multisystem proteinopathy", 
          "protein", 
          "inherited degeneration", 
          "hnRNPA2", 
          "excess incorporation", 
          "mutations", 
          "steric zipper", 
          "hnRNPA1", 
          "neurodegenerative diseases", 
          "motif", 
          "intrinsic tendency", 
          "amyotrophic lateral sclerosis", 
          "proteinopathies", 
          "degenerative diseases", 
          "cytoplasmic inclusions", 
          "ribonucleoprotein", 
          "lateral sclerosis", 
          "hnRNPA2B1", 
          "RNA", 
          "zipper", 
          "domain", 
          "granules", 
          "prions", 
          "fibrils", 
          "animal models", 
          "assembly", 
          "neurons", 
          "disease", 
          "family", 
          "glycine", 
          "formation", 
          "muscle", 
          "brain", 
          "acid", 
          "bone", 
          "interplay", 
          "A1", 
          "ALS", 
          "function", 
          "sclerosis", 
          "degeneration", 
          "pathology", 
          "incorporation", 
          "candidates", 
          "cases", 
          "polymerization", 
          "inclusion", 
          "tendency", 
          "model", 
          "algorithm"
        ], 
        "name": "Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS", 
        "pagination": "467-473", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1037021180"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/nature11922"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "23455423"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/nature11922", 
          "https://app.dimensions.ai/details/publication/pub.1037021180"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-05-10T10:06", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220509/entities/gbq_results/article/article_596.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/nature11922"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/nature11922'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/nature11922'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nature11922'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nature11922'


     

    This table displays all metadata directly associated to this object as RDF triples.

    558 TRIPLES      22 PREDICATES      125 URIs      111 LITERALS      30 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/nature11922 schema:about N01ed797a97d140a983ac7c501a27acbb
    2 N0e391602137c446a9c4073a7a64caacf
    3 N262a6dcf42ba49068d17ce926056730b
    4 N30356e067eb347e699a4c14eebd05902
    5 N3a9ea4568a74439daef6af51d6e3b68e
    6 N5756955f90e54778bb76ec4b72ecaad1
    7 N70cdd4ca51ff44748e918dcafb1047f3
    8 N78db4e2eb49046ff821db775015255ce
    9 N840dad1faf9543c7ae2d88c4b8b2487e
    10 N86e72e709a8946deab652bd5604d453a
    11 N8f66e14140c848c589e6a6efd2aed689
    12 N93a85d3ee4f44b02b22de5984899557a
    13 N9de11944b9d749549c8108b5e74f157d
    14 N9efb0730fae2453ba6d5859e45a657ee
    15 Naa560e407a5246a0bd101d8b6c95bac7
    16 Nb0f574cf4734473682ed01c8c2006548
    17 Nbc196eb6d342450c92bbec50d7a03ad2
    18 Nbe575a73998c458193bef695c7b8897a
    19 Ncce0a3f0f33c4e3391bc78ffb6ce3dc6
    20 Nd61e37c46b3b4cd18b4f2b2b27c501bf
    21 Ndef02029722f411ca55ea23f622db8b2
    22 Ne34159ede2d642a39da19b2dd7d7906c
    23 Nf3c4b74ce1414969b93f4616843d1673
    24 anzsrc-for:06
    25 anzsrc-for:0601
    26 anzsrc-for:11
    27 anzsrc-for:1109
    28 schema:author Nbde3c9b485994c169c013cece70be8d0
    29 schema:citation sg:pub.10.1007/978-1-59745-251-9_3
    30 sg:pub.10.1007/s12031-011-9627-y
    31 sg:pub.10.1038/ng1332
    32 sg:pub.10.1186/1750-1326-7-56
    33 schema:datePublished 2013-03-03
    34 schema:datePublishedReg 2013-03-03
    35 schema:description Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with neurodegenerative disease, harbour a distinctive prion-like domain (PrLD) enriched in uncharged polar amino acids and glycine. PrLDs in RNA-binding proteins are essential for the assembly of ribonucleoprotein granules. However, the interplay between human PrLD function and disease is not understood. Here we define pathogenic mutations in PrLDs of heterogeneous nuclear ribonucleoproteins (hnRNPs) A2B1 and A1 in families with inherited degeneration affecting muscle, brain, motor neuron and bone, and in one case of familial amyotrophic lateral sclerosis. Wild-type hnRNPA2 (the most abundant isoform of hnRNPA2B1) and hnRNPA1 show an intrinsic tendency to assemble into self-seeding fibrils, which is exacerbated by the disease mutations. Indeed, the pathogenic mutations strengthen a ‘steric zipper’ motif in the PrLD, which accelerates the formation of self-seeding fibrils that cross-seed polymerization of wild-type hnRNP. Notably, the disease mutations promote excess incorporation of hnRNPA2 and hnRNPA1 into stress granules and drive the formation of cytoplasmic inclusions in animal models that recapitulate the human pathology. Thus, dysregulated polymerization caused by a potent mutant steric zipper motif in a PrLD can initiate degenerative disease. Related proteins with PrLDs should therefore be considered candidates for initiating and perhaps propagating proteinopathies of muscle, brain, motor neuron and bone.
    36 schema:genre article
    37 schema:inLanguage en
    38 schema:isAccessibleForFree true
    39 schema:isPartOf N0c0ca3c55fd0440aafe62d18c12e4c42
    40 Nf72630b3895c48c5875f50e5c0ee83e2
    41 sg:journal.1018957
    42 schema:keywords A1
    43 ALS
    44 PrLDs
    45 RNA
    46 RNA-binding protein
    47 acid
    48 algorithm
    49 amino acids
    50 amyotrophic lateral sclerosis
    51 animal models
    52 assembly
    53 bone
    54 brain
    55 candidates
    56 cases
    57 cytoplasmic inclusions
    58 degeneration
    59 degenerative diseases
    60 disease
    61 disease mutations
    62 domain
    63 excess incorporation
    64 familial amyotrophic lateral sclerosis
    65 family
    66 fibrils
    67 formation
    68 function
    69 glycine
    70 granules
    71 heterogeneous nuclear ribonucleoproteins
    72 hnRNPA1
    73 hnRNPA2
    74 hnRNPA2B1
    75 human pathologies
    76 human proteins
    77 inclusion
    78 incorporation
    79 inherited degeneration
    80 interplay
    81 intrinsic tendency
    82 lateral sclerosis
    83 model
    84 motif
    85 motor neurons
    86 multisystem proteinopathy
    87 muscle
    88 mutations
    89 neurodegenerative diseases
    90 neurons
    91 nuclear ribonucleoprotein
    92 pathogenic mutations
    93 pathology
    94 polar amino acids
    95 polymerization
    96 prion-like domains
    97 prions
    98 protein
    99 proteinopathies
    100 related proteins
    101 ribonucleoprotein
    102 ribonucleoprotein granules
    103 sclerosis
    104 steric zipper
    105 steric zipper motif
    106 stress granules
    107 tendency
    108 uncharged polar amino acids
    109 yeast prions
    110 zipper
    111 zipper motif
    112 schema:name Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
    113 schema:pagination 467-473
    114 schema:productId N964776acc8994fef83a48e5845289ef5
    115 Ncdc383c8c4d44419a452b5042c9ffe85
    116 Nfc4dba0d6e914022becdd1f7c288ffdb
    117 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037021180
    118 https://doi.org/10.1038/nature11922
    119 schema:sdDatePublished 2022-05-10T10:06
    120 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    121 schema:sdPublisher Nade14ed8d3dc43b4b26375add98eae32
    122 schema:url https://doi.org/10.1038/nature11922
    123 sgo:license sg:explorer/license/
    124 sgo:sdDataset articles
    125 rdf:type schema:ScholarlyArticle
    126 N01ed797a97d140a983ac7c501a27acbb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    127 schema:name Male
    128 rdf:type schema:DefinedTerm
    129 N027206c15c9e4067931bdeb8a3c84c5e schema:affiliation grid-institutes:grid.240871.8
    130 schema:familyName Li
    131 schema:givenName Songqing
    132 rdf:type schema:Person
    133 N094fb5fcc1d54599b86ab273c3dd15d9 rdf:first sg:person.01235077502.51
    134 rdf:rest Nb7446ae4c9cb43d99a10aedda785a0bc
    135 N0c0ca3c55fd0440aafe62d18c12e4c42 schema:volumeNumber 495
    136 rdf:type schema:PublicationVolume
    137 N0e391602137c446a9c4073a7a64caacf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    138 schema:name Animals
    139 rdf:type schema:DefinedTerm
    140 N0f87207287424f1ab8265cc86ecf7978 rdf:first sg:person.01370327406.42
    141 rdf:rest N592654a5f35443d0a9b1137fcda6eead
    142 N1214c79f4aa749e09105bf445f526cf8 schema:affiliation grid-institutes:grid.25879.31
    143 schema:familyName Smith
    144 schema:givenName Bradley N.
    145 rdf:type schema:Person
    146 N229cf2cce1c845c2a84ee4a859d4020e rdf:first sg:person.01234254520.02
    147 rdf:rest N38c2fc2fd4e745ea99ec83901b5656fc
    148 N262a6dcf42ba49068d17ce926056730b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    149 schema:name Frontotemporal Dementia
    150 rdf:type schema:DefinedTerm
    151 N29e479bf78f148bfaae411637da61c41 rdf:first sg:person.0577617115.87
    152 rdf:rest N094fb5fcc1d54599b86ab273c3dd15d9
    153 N30356e067eb347e699a4c14eebd05902 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    154 schema:name Mutant Proteins
    155 rdf:type schema:DefinedTerm
    156 N33c71cd87bee495f936a462da8fc773f rdf:first N598e395c2ff648a9adcbac73f99f7df9
    157 rdf:rest Nc7463ceab209404db3909b719d3df938
    158 N38c2fc2fd4e745ea99ec83901b5656fc rdf:first sg:person.0717435623.02
    159 rdf:rest Nb5c4e75f6b7e4a5e8f332a79a6ec6000
    160 N3a9ea4568a74439daef6af51d6e3b68e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    161 schema:name Amino Acid Sequence
    162 rdf:type schema:DefinedTerm
    163 N429d6f47f6584ac2a6b30de548b4e4dd schema:affiliation grid-institutes:grid.240871.8
    164 schema:familyName Wang
    165 schema:givenName Yong-Dong
    166 rdf:type schema:Person
    167 N467fd1e0ba014e5aafd2671d7b7515cd rdf:first sg:person.015122554672.30
    168 rdf:rest N229cf2cce1c845c2a84ee4a859d4020e
    169 N5756955f90e54778bb76ec4b72ecaad1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    170 schema:name Myositis, Inclusion Body
    171 rdf:type schema:DefinedTerm
    172 N592654a5f35443d0a9b1137fcda6eead rdf:first sg:person.0644704467.27
    173 rdf:rest Nef360109359f43dcaa3f22fcf6ac3b3d
    174 N598e395c2ff648a9adcbac73f99f7df9 schema:affiliation grid-institutes:grid.240871.8
    175 schema:familyName Carter
    176 schema:givenName Robert
    177 rdf:type schema:Person
    178 N5c6c8ff730a04a68afb4bfdb1a6120e9 rdf:first N429d6f47f6584ac2a6b30de548b4e4dd
    179 rdf:rest Nf8f39e1b4df94ed0ae6df97980736c86
    180 N66b19c8c25894e39b682b67163e3a331 rdf:first sg:person.01046446465.11
    181 rdf:rest Nf360721478f44f89acd26c60866fd997
    182 N684514cdc0ee4e92b8fc3b76f1c24445 rdf:first N027206c15c9e4067931bdeb8a3c84c5e
    183 rdf:rest N84139cfc22d544bf913cf9dbc73c1d02
    184 N70bd0d7af7734c0d9df28700a8cadeb2 schema:affiliation grid-institutes:grid.13097.3c
    185 schema:familyName Miller
    186 schema:givenName Jack
    187 rdf:type schema:Person
    188 N70cdd4ca51ff44748e918dcafb1047f3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    189 schema:name Amyotrophic Lateral Sclerosis
    190 rdf:type schema:DefinedTerm
    191 N78db4e2eb49046ff821db775015255ce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    192 schema:name Female
    193 rdf:type schema:DefinedTerm
    194 N79f066de25884305808056ddb53a031f schema:affiliation grid-institutes:grid.62560.37
    195 schema:familyName Greenberg
    196 schema:givenName Steven A.
    197 rdf:type schema:Person
    198 N819b958a0efd43a7abc2bafd16ff1ac5 rdf:first sg:person.0651415272.99
    199 rdf:rest N9cdbef32b9ff47d582610cb85c7bf6d6
    200 N819d559e34194ba2a8a003a2617855fe schema:affiliation grid-institutes:grid.26790.3a
    201 schema:familyName Benatar
    202 schema:givenName Michael
    203 rdf:type schema:Person
    204 N840dad1faf9543c7ae2d88c4b8b2487e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    205 schema:name Saccharomyces cerevisiae Proteins
    206 rdf:type schema:DefinedTerm
    207 N84139cfc22d544bf913cf9dbc73c1d02 rdf:first sg:person.01002107304.04
    208 rdf:rest Nd264a73678094b0d9afa63941eab33b6
    209 N86e72e709a8946deab652bd5604d453a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    210 schema:name Drosophila melanogaster
    211 rdf:type schema:DefinedTerm
    212 N87e0fe3c46424a5ca18d19518f7daf3d rdf:first sg:person.01127334262.78
    213 rdf:rest N5c6c8ff730a04a68afb4bfdb1a6120e9
    214 N8f66e14140c848c589e6a6efd2aed689 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    215 schema:name HeLa Cells
    216 rdf:type schema:DefinedTerm
    217 N90f65ce5cfa34535b1aca35a78074b56 rdf:first sg:person.01043025611.21
    218 rdf:rest N819b958a0efd43a7abc2bafd16ff1ac5
    219 N93a85d3ee4f44b02b22de5984899557a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    220 schema:name Humans
    221 rdf:type schema:DefinedTerm
    222 N964776acc8994fef83a48e5845289ef5 schema:name doi
    223 schema:value 10.1038/nature11922
    224 rdf:type schema:PropertyValue
    225 N9ae4d8b3c5d94174a56826d513a982eb rdf:first sg:person.01036663113.01
    226 rdf:rest N684514cdc0ee4e92b8fc3b76f1c24445
    227 N9cdbef32b9ff47d582610cb85c7bf6d6 rdf:first N1214c79f4aa749e09105bf445f526cf8
    228 rdf:rest Ne5810bdd2b8642d0b32be96add77f1b8
    229 N9de11944b9d749549c8108b5e74f157d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    230 schema:name Peptide Termination Factors
    231 rdf:type schema:DefinedTerm
    232 N9efb0730fae2453ba6d5859e45a657ee schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    233 schema:name Inclusion Bodies
    234 rdf:type schema:DefinedTerm
    235 N9f23431e2deb44ed8943b67ba68b27db rdf:first sg:person.01165040350.56
    236 rdf:rest Nd97a1cd0e0a645ff87ec23446e5529fa
    237 Na294170e4e554a6db5307dcde31623ce rdf:first sg:person.01241430423.21
    238 rdf:rest Nbed7beb3f3ee41f19606ffaaaa341e0d
    239 Naa560e407a5246a0bd101d8b6c95bac7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    240 schema:name Mice
    241 rdf:type schema:DefinedTerm
    242 Nade14ed8d3dc43b4b26375add98eae32 schema:name Springer Nature - SN SciGraph project
    243 rdf:type schema:Organization
    244 Nb0f574cf4734473682ed01c8c2006548 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    245 schema:name Molecular Sequence Data
    246 rdf:type schema:DefinedTerm
    247 Nb3252c5ddea9493b97ec16e52c641720 rdf:first sg:person.01004153144.54
    248 rdf:rest Nea61447afe324a539340aa0c95ed3a1d
    249 Nb5c4e75f6b7e4a5e8f332a79a6ec6000 rdf:first Nc2e5b267d0c048869a31837cfb29c97d
    250 rdf:rest Nb3252c5ddea9493b97ec16e52c641720
    251 Nb7446ae4c9cb43d99a10aedda785a0bc rdf:first sg:person.013436160257.94
    252 rdf:rest rdf:nil
    253 Nbc196eb6d342450c92bbec50d7a03ad2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    254 schema:name Muscular Dystrophies, Limb-Girdle
    255 rdf:type schema:DefinedTerm
    256 Nbde3c9b485994c169c013cece70be8d0 rdf:first sg:person.01176644355.00
    257 rdf:rest N87e0fe3c46424a5ca18d19518f7daf3d
    258 Nbe575a73998c458193bef695c7b8897a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    259 schema:name RNA
    260 rdf:type schema:DefinedTerm
    261 Nbed7beb3f3ee41f19606ffaaaa341e0d rdf:first sg:person.01011236005.03
    262 rdf:rest Nc077e91603e04191b74255e8d2d828b8
    263 Nc077e91603e04191b74255e8d2d828b8 rdf:first sg:person.01241145525.69
    264 rdf:rest N29e479bf78f148bfaae411637da61c41
    265 Nc2e5b267d0c048869a31837cfb29c97d schema:affiliation grid-institutes:grid.4367.6
    266 schema:familyName Pestronk
    267 schema:givenName Alan
    268 rdf:type schema:Person
    269 Nc7463ceab209404db3909b719d3df938 rdf:first sg:person.01016121034.80
    270 rdf:rest Nd6b74eae4de446acb0fa6fc410a1cc3c
    271 Ncce0a3f0f33c4e3391bc78ffb6ce3dc6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    272 schema:name Mutation
    273 rdf:type schema:DefinedTerm
    274 Ncdc383c8c4d44419a452b5042c9ffe85 schema:name dimensions_id
    275 schema:value pub.1037021180
    276 rdf:type schema:PropertyValue
    277 Nd264a73678094b0d9afa63941eab33b6 rdf:first sg:person.0653164337.44
    278 rdf:rest N33c71cd87bee495f936a462da8fc773f
    279 Nd61e37c46b3b4cd18b4f2b2b27c501bf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    280 schema:name Protein Structure, Tertiary
    281 rdf:type schema:DefinedTerm
    282 Nd6b74eae4de446acb0fa6fc410a1cc3c rdf:first sg:person.01015313604.68
    283 rdf:rest N0f87207287424f1ab8265cc86ecf7978
    284 Nd97a1cd0e0a645ff87ec23446e5529fa rdf:first sg:person.01055662734.77
    285 rdf:rest N9ae4d8b3c5d94174a56826d513a982eb
    286 Ndda69a5d9d8b4b7da385ec5cc67a316d rdf:first sg:person.01201310562.25
    287 rdf:rest N9f23431e2deb44ed8943b67ba68b27db
    288 Ndef02029722f411ca55ea23f622db8b2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    289 schema:name Heterogeneous-Nuclear Ribonucleoprotein Group A-B
    290 rdf:type schema:DefinedTerm
    291 Ne34159ede2d642a39da19b2dd7d7906c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    292 schema:name Prions
    293 rdf:type schema:DefinedTerm
    294 Ne5810bdd2b8642d0b32be96add77f1b8 rdf:first sg:person.01224543341.26
    295 rdf:rest Nfb51f233f9dc4683957f83f090d123a3
    296 Ne72dd5edbb4a4ee3b63be72cc52dd2e2 rdf:first N70bd0d7af7734c0d9df28700a8cadeb2
    297 rdf:rest N467fd1e0ba014e5aafd2671d7b7515cd
    298 Nea61447afe324a539340aa0c95ed3a1d rdf:first sg:person.0637134562.09
    299 rdf:rest N66b19c8c25894e39b682b67163e3a331
    300 Nef360109359f43dcaa3f22fcf6ac3b3d rdf:first N79f066de25884305808056ddb53a031f
    301 rdf:rest N90f65ce5cfa34535b1aca35a78074b56
    302 Nf360721478f44f89acd26c60866fd997 rdf:first N819d559e34194ba2a8a003a2617855fe
    303 rdf:rest Na294170e4e554a6db5307dcde31623ce
    304 Nf3c4b74ce1414969b93f4616843d1673 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    305 schema:name Osteitis Deformans
    306 rdf:type schema:DefinedTerm
    307 Nf72630b3895c48c5875f50e5c0ee83e2 schema:issueNumber 7442
    308 rdf:type schema:PublicationIssue
    309 Nf8f39e1b4df94ed0ae6df97980736c86 rdf:first sg:person.01052535702.65
    310 rdf:rest Ndda69a5d9d8b4b7da385ec5cc67a316d
    311 Nfb51f233f9dc4683957f83f090d123a3 rdf:first sg:person.01123524205.63
    312 rdf:rest Ne72dd5edbb4a4ee3b63be72cc52dd2e2
    313 Nfc4dba0d6e914022becdd1f7c288ffdb schema:name pubmed_id
    314 schema:value 23455423
    315 rdf:type schema:PropertyValue
    316 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    317 schema:name Biological Sciences
    318 rdf:type schema:DefinedTerm
    319 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
    320 schema:name Biochemistry and Cell Biology
    321 rdf:type schema:DefinedTerm
    322 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    323 schema:name Medical and Health Sciences
    324 rdf:type schema:DefinedTerm
    325 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
    326 schema:name Neurosciences
    327 rdf:type schema:DefinedTerm
    328 sg:grant.2355250 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    329 rdf:type schema:MonetaryGrant
    330 sg:grant.2405872 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    331 rdf:type schema:MonetaryGrant
    332 sg:grant.2434811 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    333 rdf:type schema:MonetaryGrant
    334 sg:grant.2448404 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    335 rdf:type schema:MonetaryGrant
    336 sg:grant.2561589 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    337 rdf:type schema:MonetaryGrant
    338 sg:grant.2617738 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    339 rdf:type schema:MonetaryGrant
    340 sg:grant.2722925 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    341 rdf:type schema:MonetaryGrant
    342 sg:grant.2759579 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    343 rdf:type schema:MonetaryGrant
    344 sg:grant.2780245 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    345 rdf:type schema:MonetaryGrant
    346 sg:grant.3116644 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    347 rdf:type schema:MonetaryGrant
    348 sg:grant.3637675 http://pending.schema.org/fundedItem sg:pub.10.1038/nature11922
    349 rdf:type schema:MonetaryGrant
    350 sg:journal.1018957 schema:issn 0028-0836
    351 1476-4687
    352 schema:name Nature
    353 schema:publisher Springer Nature
    354 rdf:type schema:Periodical
    355 sg:person.01002107304.04 schema:affiliation grid-institutes:grid.240871.8
    356 schema:familyName Molliex
    357 schema:givenName Amandine
    358 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002107304.04
    359 rdf:type schema:Person
    360 sg:person.01004153144.54 schema:affiliation grid-institutes:grid.25879.31
    361 schema:familyName Li
    362 schema:givenName Yun R.
    363 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004153144.54
    364 rdf:type schema:Person
    365 sg:person.01011236005.03 schema:affiliation grid-institutes:grid.266093.8
    366 schema:familyName Kimonis
    367 schema:givenName Virginia E.
    368 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01011236005.03
    369 rdf:type schema:Person
    370 sg:person.01015313604.68 schema:affiliation grid-institutes:grid.417467.7
    371 schema:familyName Wojtas
    372 schema:givenName Aleksandra M.
    373 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01015313604.68
    374 rdf:type schema:Person
    375 sg:person.01016121034.80 schema:affiliation grid-institutes:grid.417467.7
    376 schema:familyName Boylan
    377 schema:givenName Kevin B.
    378 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01016121034.80
    379 rdf:type schema:Person
    380 sg:person.01036663113.01 schema:affiliation grid-institutes:grid.240871.8
    381 schema:familyName Freibaum
    382 schema:givenName Brian
    383 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036663113.01
    384 rdf:type schema:Person
    385 sg:person.01043025611.21 schema:affiliation grid-institutes:grid.25879.31
    386 schema:familyName Trojanowski
    387 schema:givenName John Q.
    388 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043025611.21
    389 rdf:type schema:Person
    390 sg:person.01046446465.11 schema:affiliation grid-institutes:grid.168010.e
    391 schema:familyName Gitler
    392 schema:givenName Aaron D.
    393 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01046446465.11
    394 rdf:type schema:Person
    395 sg:person.01052535702.65 schema:affiliation grid-institutes:grid.25879.31
    396 schema:familyName Scarborough
    397 schema:givenName Emily A.
    398 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052535702.65
    399 rdf:type schema:Person
    400 sg:person.01055662734.77 schema:affiliation grid-institutes:grid.47894.36
    401 schema:familyName MacLea
    402 schema:givenName Kyle S.
    403 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055662734.77
    404 rdf:type schema:Person
    405 sg:person.01123524205.63 schema:affiliation grid-institutes:grid.13097.3c
    406 schema:familyName Gkazi
    407 schema:givenName Athina-Soragia
    408 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123524205.63
    409 rdf:type schema:Person
    410 sg:person.01127334262.78 schema:affiliation grid-institutes:grid.240871.8
    411 schema:familyName Kim
    412 schema:givenName Nam Chul
    413 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127334262.78
    414 rdf:type schema:Person
    415 sg:person.01165040350.56 schema:affiliation grid-institutes:grid.25879.31
    416 schema:familyName Diaz
    417 schema:givenName Zamia
    418 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165040350.56
    419 rdf:type schema:Person
    420 sg:person.01176644355.00 schema:affiliation grid-institutes:grid.240871.8
    421 schema:familyName Kim
    422 schema:givenName Hong Joo
    423 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176644355.00
    424 rdf:type schema:Person
    425 sg:person.01201310562.25 schema:affiliation grid-institutes:grid.240871.8
    426 schema:familyName Moore
    427 schema:givenName Jennifer
    428 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201310562.25
    429 rdf:type schema:Person
    430 sg:person.01224543341.26 schema:affiliation grid-institutes:grid.13097.3c
    431 schema:familyName Topp
    432 schema:givenName Simon
    433 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224543341.26
    434 rdf:type schema:Person
    435 sg:person.01234254520.02 schema:affiliation grid-institutes:grid.7708.8
    436 schema:familyName Kottlors
    437 schema:givenName Michael
    438 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234254520.02
    439 rdf:type schema:Person
    440 sg:person.01235077502.51 schema:affiliation grid-institutes:grid.25879.31
    441 schema:familyName Shorter
    442 schema:givenName James
    443 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235077502.51
    444 rdf:type schema:Person
    445 sg:person.01241145525.69 schema:affiliation grid-institutes:grid.47894.36
    446 schema:familyName Ross
    447 schema:givenName Eric D.
    448 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241145525.69
    449 rdf:type schema:Person
    450 sg:person.01241430423.21 schema:affiliation grid-institutes:grid.280432.f
    451 schema:familyName King
    452 schema:givenName Oliver D.
    453 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241430423.21
    454 rdf:type schema:Person
    455 sg:person.013436160257.94 schema:affiliation grid-institutes:grid.240871.8
    456 schema:familyName Taylor
    457 schema:givenName J. Paul
    458 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013436160257.94
    459 rdf:type schema:Person
    460 sg:person.01370327406.42 schema:affiliation grid-institutes:grid.417467.7
    461 schema:familyName Rademakers
    462 schema:givenName Rosa
    463 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370327406.42
    464 rdf:type schema:Person
    465 sg:person.015122554672.30 schema:affiliation grid-institutes:grid.13097.3c
    466 schema:familyName Shaw
    467 schema:givenName Christopher E.
    468 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015122554672.30
    469 rdf:type schema:Person
    470 sg:person.0577617115.87 schema:affiliation grid-institutes:grid.4367.6
    471 schema:familyName Weihl
    472 schema:givenName Conrad C.
    473 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577617115.87
    474 rdf:type schema:Person
    475 sg:person.0637134562.09 schema:affiliation grid-institutes:grid.25879.31
    476 schema:familyName Ford
    477 schema:givenName Alice Flynn
    478 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637134562.09
    479 rdf:type schema:Person
    480 sg:person.0644704467.27 schema:affiliation grid-institutes:grid.62560.37
    481 schema:familyName Pinkus
    482 schema:givenName Jack L.
    483 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644704467.27
    484 rdf:type schema:Person
    485 sg:person.0651415272.99 schema:affiliation grid-institutes:grid.94365.3d
    486 schema:familyName Traynor
    487 schema:givenName Bryan J.
    488 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651415272.99
    489 rdf:type schema:Person
    490 sg:person.0653164337.44 schema:affiliation grid-institutes:grid.240871.8
    491 schema:familyName Kanagaraj
    492 schema:givenName Anderson P.
    493 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653164337.44
    494 rdf:type schema:Person
    495 sg:person.0717435623.02 schema:affiliation grid-institutes:grid.7708.8
    496 schema:familyName Kirschner
    497 schema:givenName Janbernd
    498 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717435623.02
    499 rdf:type schema:Person
    500 sg:pub.10.1007/978-1-59745-251-9_3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018752572
    501 https://doi.org/10.1007/978-1-59745-251-9_3
    502 rdf:type schema:CreativeWork
    503 sg:pub.10.1007/s12031-011-9627-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1043240937
    504 https://doi.org/10.1007/s12031-011-9627-y
    505 rdf:type schema:CreativeWork
    506 sg:pub.10.1038/ng1332 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041421858
    507 https://doi.org/10.1038/ng1332
    508 rdf:type schema:CreativeWork
    509 sg:pub.10.1186/1750-1326-7-56 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038751873
    510 https://doi.org/10.1186/1750-1326-7-56
    511 rdf:type schema:CreativeWork
    512 grid-institutes:grid.13097.3c schema:alternateName Department of Clinical Neuroscience, King’s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK
    513 schema:name Department of Clinical Neuroscience, King’s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK
    514 rdf:type schema:Organization
    515 grid-institutes:grid.168010.e schema:alternateName Department of Genetics, Stanford University School of Medicine, 94305, Stanford, California, USA
    516 schema:name Department of Genetics, Stanford University School of Medicine, 94305, Stanford, California, USA
    517 rdf:type schema:Organization
    518 grid-institutes:grid.240871.8 schema:alternateName Department of Computational Biology, St Jude Children’s Research Hospital, 38120, Memphis, Tennessee, USA
    519 Department of Developmental Neurobiology, St Jude Children’s Research Hospital, 38120, Memphis, Tennessee, USA
    520 Hartwell Center for Bioinformatics and Biotechnology, St Jude Children’s Research Hospital, 38120, Memphis, Tennessee, USA
    521 schema:name Department of Computational Biology, St Jude Children’s Research Hospital, 38120, Memphis, Tennessee, USA
    522 Department of Developmental Neurobiology, St Jude Children’s Research Hospital, 38120, Memphis, Tennessee, USA
    523 Hartwell Center for Bioinformatics and Biotechnology, St Jude Children’s Research Hospital, 38120, Memphis, Tennessee, USA
    524 rdf:type schema:Organization
    525 grid-institutes:grid.25879.31 schema:alternateName Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA
    526 Department of Pathology and Laboratory Medicine, Institute on Aging and Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA
    527 Medical Scientist Training Program, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA
    528 schema:name Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA
    529 Department of Pathology and Laboratory Medicine, Institute on Aging and Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA
    530 Medical Scientist Training Program, Perelman School of Medicine at the University of Pennsylvania, 19104, Philadelphia, Pennsylvania, USA
    531 rdf:type schema:Organization
    532 grid-institutes:grid.266093.8 schema:alternateName Department of Pediatrics, Division of Genetics and Metabolism, University of California-Irvine, 2501 Hewitt Hall, Irvine, California 92696, USA
    533 schema:name Department of Pediatrics, Division of Genetics and Metabolism, University of California-Irvine, 2501 Hewitt Hall, Irvine, California 92696, USA
    534 rdf:type schema:Organization
    535 grid-institutes:grid.26790.3a schema:alternateName Neurology Department, University of Miami Miller School of Medicine, 33136, Miami, Florida, USA
    536 schema:name Neurology Department, University of Miami Miller School of Medicine, 33136, Miami, Florida, USA
    537 rdf:type schema:Organization
    538 grid-institutes:grid.280432.f schema:alternateName Boston Biomedical Research Institute, 02472, Watertown, Massachusetts, USA
    539 schema:name Boston Biomedical Research Institute, 02472, Watertown, Massachusetts, USA
    540 rdf:type schema:Organization
    541 grid-institutes:grid.417467.7 schema:alternateName Department of Neuroscience, Mayo Clinic, 32224, Jacksonville, Florida, USA
    542 schema:name Department of Neuroscience, Mayo Clinic, 32224, Jacksonville, Florida, USA
    543 rdf:type schema:Organization
    544 grid-institutes:grid.4367.6 schema:alternateName Department of Neurology, Washington University School of Medicine, 63110, Saint Louis, Missouri, USA
    545 schema:name Department of Neurology, Washington University School of Medicine, 63110, Saint Louis, Missouri, USA
    546 rdf:type schema:Organization
    547 grid-institutes:grid.47894.36 schema:alternateName Department of Biochemistry and Molecular Biology, Colorado State University, 80523, Fort Collins, Colorado, USA
    548 schema:name Department of Biochemistry and Molecular Biology, Colorado State University, 80523, Fort Collins, Colorado, USA
    549 rdf:type schema:Organization
    550 grid-institutes:grid.62560.37 schema:alternateName Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, 02115, Boston, Massachusetts, USA
    551 schema:name Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, 02115, Boston, Massachusetts, USA
    552 rdf:type schema:Organization
    553 grid-institutes:grid.7708.8 schema:alternateName Division of Neuropediatrics and Muscle Disorders, University Children’s Hospital Freiburg, 79106 Freiburg, Germany
    554 schema:name Division of Neuropediatrics and Muscle Disorders, University Children’s Hospital Freiburg, 79106 Freiburg, Germany
    555 rdf:type schema:Organization
    556 grid-institutes:grid.94365.3d schema:alternateName Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, Porter Neuroscience Building, National Institute on Aging, National Institutes of Health, 20892, Bethesda, Maryland, USA
    557 schema:name Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, Porter Neuroscience Building, National Institute on Aging, National Institutes of Health, 20892, Bethesda, Maryland, USA
    558 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...