Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Marcela P. Cataldi, Peijuan Lu, Anthony Blaeser, Qi Long Lu

ABSTRACT

O-mannosylated α-dystroglycan (α-DG) serves as receptors for cell-cell and cell-extracellular matrix adhesion and signaling. Hypoglycosylation of α-DG is involved in cancer progression and underlies dystroglycanopathy with aberrant neuronal development. Here we report that ribitol, a pentose alcohol with previously unknown function in mammalian cells, partially restores functional O-mannosylation of α-DG (F-α-DG) in the dystroglycanopathy model containing a P448L mutation in fukutin-related protein (FKRP) gene, which is clinically associated with severe congenital muscular dystrophy. Oral administration of ribitol increases levels of ribitol-5-phosphate and CDP-ribitol and restores therapeutic levels of F-α-DG in skeletal and cardiac muscles. Furthermore, ribitol, given before and after the onset of disease phenotype, reduces skeletal muscle pathology, significantly decreases cardiac fibrosis and improves skeletal and respiratory functions in the FKRP mutant mice. Ribitol treatment presents a new class, low risk, and easy to administer experimental therapy to restore F-α-DG in FKRP-related muscular dystrophy. More... »

PAGES

3448

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41467-018-05990-z

DOI

http://dx.doi.org/10.1038/s41467-018-05990-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1106295035

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30150693


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/2008/0601", 
        "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/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Carolinas Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239494.1", 
          "name": [
            "McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, 28203, Charlotte, NC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cataldi", 
        "givenName": "Marcela P.", 
        "id": "sg:person.0763327241.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763327241.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Carolinas Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239494.1", 
          "name": [
            "McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, 28203, Charlotte, NC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lu", 
        "givenName": "Peijuan", 
        "id": "sg:person.01277357351.65", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277357351.65"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Carolinas Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239494.1", 
          "name": [
            "McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, 28203, Charlotte, NC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Blaeser", 
        "givenName": "Anthony", 
        "id": "sg:person.01104057313.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104057313.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Carolinas Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239494.1", 
          "name": [
            "McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, 28203, Charlotte, NC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lu", 
        "givenName": "Qi Long", 
        "id": "sg:person.0627242407.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0627242407.48"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/nchembio.2146", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001739773", 
          "https://doi.org/10.1038/nchembio.2146"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.122.4.809", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004016931"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajpath.2015.03.017", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004883177"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2003.013870", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008261766"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2012.07.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010129269"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature00837", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012382376", 
          "https://doi.org/10.1038/nature00837"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature00837", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012382376", 
          "https://doi.org/10.1038/nature00837"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m310614200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015727432"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.chembiol.2015.10.014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016382220"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.chembiol.2015.10.014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016382220"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(94)90052-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017225569"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mus.25378", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023037276"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms11534", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023827302", 
          "https://doi.org/10.1038/ncomms11534"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/emboj/18.4.863", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024393686"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.7554/elife.14473", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024474438"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/pros.22581", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026141821"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajpath.2016.02.015", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027104844"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0002-9440(10)63160-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027715476"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/mt.2014.141", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028620068"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1750-3639.2008.00198.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029151530"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029951038"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/glycob/cwp189", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032426657"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1128/jvi.79.22.14282-14296.2005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032519053"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jnnp.2007.141804", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034394064"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0307228101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035701346"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1677/joe-07-0309", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035928650"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/10.25.2851", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037579944"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/324412", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038265921"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.c900007200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038824952"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nmd.2010.08.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039288585"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.7554/elife.03941", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040303905"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.200105003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041549639"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(91)90035-w", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041810971"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-013-1302-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042436606", 
          "https://doi.org/10.1007/s00439-013-1302-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-013-1302-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042436606", 
          "https://doi.org/10.1007/s00439-013-1302-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/11.26.3319", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043692738"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10038-006-0056-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044395432", 
          "https://doi.org/10.1007/s10038-006-0056-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nmd.2016.12.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044952453"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.celrep.2016.02.017", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045819470"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddq314", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046570555"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/glycob/cwv021", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048255830"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(02)00907-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049624032"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m116.751917", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058215546"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1214115", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062465662"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1214115", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062465662"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1214115", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062465662"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1239951", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062468282"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000058902.88181.3d", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064345079"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000058902.88181.3d", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064345079"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000058902.88181.3d", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064345079"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.omtm.2017.02.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084100067"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.lfs.2017.06.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085858261"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/glycob/cwx062", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090494149"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.omtn.2018.02.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1101350449"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-12", 
    "datePublishedReg": "2018-12-01", 
    "description": "O-mannosylated \u03b1-dystroglycan (\u03b1-DG) serves as receptors for cell-cell and cell-extracellular matrix adhesion and signaling. Hypoglycosylation of \u03b1-DG is involved in cancer progression and underlies dystroglycanopathy with aberrant neuronal development. Here we report that ribitol, a pentose alcohol with previously unknown function in mammalian cells, partially restores functional O-mannosylation of \u03b1-DG (F-\u03b1-DG) in the dystroglycanopathy model containing a P448L mutation in fukutin-related protein (FKRP) gene, which is clinically associated with severe congenital muscular dystrophy. Oral administration of ribitol increases levels of ribitol-5-phosphate and CDP-ribitol and restores therapeutic levels of F-\u03b1-DG in skeletal and cardiac muscles. Furthermore, ribitol, given before and after the onset of disease phenotype, reduces skeletal muscle pathology, significantly decreases cardiac fibrosis and improves skeletal and respiratory functions in the FKRP mutant mice. Ribitol treatment presents a new class, low risk, and easy to administer experimental therapy to restore F-\u03b1-DG in FKRP-related muscular dystrophy.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41467-018-05990-z", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1043282", 
        "issn": [
          "2041-1723"
        ], 
        "name": "Nature Communications", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "9"
      }
    ], 
    "name": "Ribitol restores functionally glycosylated \u03b1-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice", 
    "pagination": "3448", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "e88b01982eb96a8870e904a0037ae21905109072600da28a9e17cb7e11dd0370"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30150693"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101528555"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41467-018-05990-z"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1106295035"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41467-018-05990-z", 
      "https://app.dimensions.ai/details/publication/pub.1106295035"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T20:06", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8681_00000567.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41467-018-05990-z"
  }
]
 

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/s41467-018-05990-z'

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/s41467-018-05990-z'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41467-018-05990-z'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41467-018-05990-z'


 

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

235 TRIPLES      21 PREDICATES      76 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41467-018-05990-z schema:about anzsrc-for:06
2 anzsrc-for:0601
3 schema:author N7ccb5ce0a800424396e32c9b52ce0808
4 schema:citation sg:pub.10.1007/s00439-013-1302-7
5 sg:pub.10.1007/s10038-006-0056-7
6 sg:pub.10.1038/nature00837
7 sg:pub.10.1038/nchembio.2146
8 sg:pub.10.1038/ncomms11534
9 https://doi.org/10.1002/humu.20110
10 https://doi.org/10.1002/mus.25378
11 https://doi.org/10.1002/pros.22581
12 https://doi.org/10.1016/0092-8674(91)90035-w
13 https://doi.org/10.1016/0092-8674(94)90052-3
14 https://doi.org/10.1016/j.ajhg.2012.07.009
15 https://doi.org/10.1016/j.ajpath.2015.03.017
16 https://doi.org/10.1016/j.ajpath.2016.02.015
17 https://doi.org/10.1016/j.celrep.2016.02.017
18 https://doi.org/10.1016/j.chembiol.2015.10.014
19 https://doi.org/10.1016/j.lfs.2017.06.004
20 https://doi.org/10.1016/j.nmd.2010.08.008
21 https://doi.org/10.1016/j.nmd.2016.12.010
22 https://doi.org/10.1016/j.omtm.2017.02.002
23 https://doi.org/10.1016/j.omtn.2018.02.008
24 https://doi.org/10.1016/s0002-9440(10)63160-4
25 https://doi.org/10.1016/s0092-8674(02)00907-8
26 https://doi.org/10.1038/mt.2014.141
27 https://doi.org/10.1073/pnas.0307228101
28 https://doi.org/10.1074/jbc.c900007200
29 https://doi.org/10.1074/jbc.m116.751917
30 https://doi.org/10.1074/jbc.m310614200
31 https://doi.org/10.1083/jcb.122.4.809
32 https://doi.org/10.1083/jcb.200105003
33 https://doi.org/10.1086/324412
34 https://doi.org/10.1093/emboj/18.4.863
35 https://doi.org/10.1093/glycob/cwp189
36 https://doi.org/10.1093/glycob/cwv021
37 https://doi.org/10.1093/glycob/cwx062
38 https://doi.org/10.1093/hmg/10.25.2851
39 https://doi.org/10.1093/hmg/11.26.3319
40 https://doi.org/10.1093/hmg/ddq314
41 https://doi.org/10.1111/j.1750-3639.2008.00198.x
42 https://doi.org/10.1126/science.1214115
43 https://doi.org/10.1126/science.1239951
44 https://doi.org/10.1128/jvi.79.22.14282-14296.2005
45 https://doi.org/10.1136/jmg.2003.013870
46 https://doi.org/10.1136/jnnp.2007.141804
47 https://doi.org/10.1212/01.wnl.0000058902.88181.3d
48 https://doi.org/10.1677/joe-07-0309
49 https://doi.org/10.7554/elife.03941
50 https://doi.org/10.7554/elife.14473
51 schema:datePublished 2018-12
52 schema:datePublishedReg 2018-12-01
53 schema:description O-mannosylated α-dystroglycan (α-DG) serves as receptors for cell-cell and cell-extracellular matrix adhesion and signaling. Hypoglycosylation of α-DG is involved in cancer progression and underlies dystroglycanopathy with aberrant neuronal development. Here we report that ribitol, a pentose alcohol with previously unknown function in mammalian cells, partially restores functional O-mannosylation of α-DG (F-α-DG) in the dystroglycanopathy model containing a P448L mutation in fukutin-related protein (FKRP) gene, which is clinically associated with severe congenital muscular dystrophy. Oral administration of ribitol increases levels of ribitol-5-phosphate and CDP-ribitol and restores therapeutic levels of F-α-DG in skeletal and cardiac muscles. Furthermore, ribitol, given before and after the onset of disease phenotype, reduces skeletal muscle pathology, significantly decreases cardiac fibrosis and improves skeletal and respiratory functions in the FKRP mutant mice. Ribitol treatment presents a new class, low risk, and easy to administer experimental therapy to restore F-α-DG in FKRP-related muscular dystrophy.
54 schema:genre research_article
55 schema:inLanguage en
56 schema:isAccessibleForFree true
57 schema:isPartOf N5d053ecc5e9849b78bf5cd6b109d3ec5
58 N9a86478cc53642d5bf582e8efa0477f9
59 sg:journal.1043282
60 schema:name Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice
61 schema:pagination 3448
62 schema:productId N25cbe7c9551f4b9fa3bfbb5e3f9480c0
63 N3bd46b47f801474fbfe2a8b4b4fa5585
64 N77bcc6aa0e2042c7a7ed21d54f095906
65 N971ef0b9b4b947c2ae7022f9e52a7658
66 Nb51a8f27652747c89d419745020e6c14
67 schema:sameAs https://app.dimensions.ai/details/publication/pub.1106295035
68 https://doi.org/10.1038/s41467-018-05990-z
69 schema:sdDatePublished 2019-04-10T20:06
70 schema:sdLicense https://scigraph.springernature.com/explorer/license/
71 schema:sdPublisher N0a902fdefb4e44959d4efde83db345f7
72 schema:url https://www.nature.com/articles/s41467-018-05990-z
73 sgo:license sg:explorer/license/
74 sgo:sdDataset articles
75 rdf:type schema:ScholarlyArticle
76 N0a902fdefb4e44959d4efde83db345f7 schema:name Springer Nature - SN SciGraph project
77 rdf:type schema:Organization
78 N15ab9a1c5a68433381d472188b597970 rdf:first sg:person.01104057313.28
79 rdf:rest N91bbdecb72bc4d7aa198bb133fc1b20f
80 N25cbe7c9551f4b9fa3bfbb5e3f9480c0 schema:name dimensions_id
81 schema:value pub.1106295035
82 rdf:type schema:PropertyValue
83 N3bd46b47f801474fbfe2a8b4b4fa5585 schema:name pubmed_id
84 schema:value 30150693
85 rdf:type schema:PropertyValue
86 N45197be3749a4fe68945168b02284ceb rdf:first sg:person.01277357351.65
87 rdf:rest N15ab9a1c5a68433381d472188b597970
88 N5d053ecc5e9849b78bf5cd6b109d3ec5 schema:volumeNumber 9
89 rdf:type schema:PublicationVolume
90 N77bcc6aa0e2042c7a7ed21d54f095906 schema:name doi
91 schema:value 10.1038/s41467-018-05990-z
92 rdf:type schema:PropertyValue
93 N7ccb5ce0a800424396e32c9b52ce0808 rdf:first sg:person.0763327241.14
94 rdf:rest N45197be3749a4fe68945168b02284ceb
95 N91bbdecb72bc4d7aa198bb133fc1b20f rdf:first sg:person.0627242407.48
96 rdf:rest rdf:nil
97 N971ef0b9b4b947c2ae7022f9e52a7658 schema:name nlm_unique_id
98 schema:value 101528555
99 rdf:type schema:PropertyValue
100 N9a86478cc53642d5bf582e8efa0477f9 schema:issueNumber 1
101 rdf:type schema:PublicationIssue
102 Nb51a8f27652747c89d419745020e6c14 schema:name readcube_id
103 schema:value e88b01982eb96a8870e904a0037ae21905109072600da28a9e17cb7e11dd0370
104 rdf:type schema:PropertyValue
105 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
106 schema:name Biological Sciences
107 rdf:type schema:DefinedTerm
108 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
109 schema:name Biochemistry and Cell Biology
110 rdf:type schema:DefinedTerm
111 sg:journal.1043282 schema:issn 2041-1723
112 schema:name Nature Communications
113 rdf:type schema:Periodical
114 sg:person.01104057313.28 schema:affiliation https://www.grid.ac/institutes/grid.239494.1
115 schema:familyName Blaeser
116 schema:givenName Anthony
117 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104057313.28
118 rdf:type schema:Person
119 sg:person.01277357351.65 schema:affiliation https://www.grid.ac/institutes/grid.239494.1
120 schema:familyName Lu
121 schema:givenName Peijuan
122 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277357351.65
123 rdf:type schema:Person
124 sg:person.0627242407.48 schema:affiliation https://www.grid.ac/institutes/grid.239494.1
125 schema:familyName Lu
126 schema:givenName Qi Long
127 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0627242407.48
128 rdf:type schema:Person
129 sg:person.0763327241.14 schema:affiliation https://www.grid.ac/institutes/grid.239494.1
130 schema:familyName Cataldi
131 schema:givenName Marcela P.
132 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763327241.14
133 rdf:type schema:Person
134 sg:pub.10.1007/s00439-013-1302-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042436606
135 https://doi.org/10.1007/s00439-013-1302-7
136 rdf:type schema:CreativeWork
137 sg:pub.10.1007/s10038-006-0056-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044395432
138 https://doi.org/10.1007/s10038-006-0056-7
139 rdf:type schema:CreativeWork
140 sg:pub.10.1038/nature00837 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012382376
141 https://doi.org/10.1038/nature00837
142 rdf:type schema:CreativeWork
143 sg:pub.10.1038/nchembio.2146 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001739773
144 https://doi.org/10.1038/nchembio.2146
145 rdf:type schema:CreativeWork
146 sg:pub.10.1038/ncomms11534 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023827302
147 https://doi.org/10.1038/ncomms11534
148 rdf:type schema:CreativeWork
149 https://doi.org/10.1002/humu.20110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029951038
150 rdf:type schema:CreativeWork
151 https://doi.org/10.1002/mus.25378 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023037276
152 rdf:type schema:CreativeWork
153 https://doi.org/10.1002/pros.22581 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026141821
154 rdf:type schema:CreativeWork
155 https://doi.org/10.1016/0092-8674(91)90035-w schema:sameAs https://app.dimensions.ai/details/publication/pub.1041810971
156 rdf:type schema:CreativeWork
157 https://doi.org/10.1016/0092-8674(94)90052-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017225569
158 rdf:type schema:CreativeWork
159 https://doi.org/10.1016/j.ajhg.2012.07.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010129269
160 rdf:type schema:CreativeWork
161 https://doi.org/10.1016/j.ajpath.2015.03.017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004883177
162 rdf:type schema:CreativeWork
163 https://doi.org/10.1016/j.ajpath.2016.02.015 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027104844
164 rdf:type schema:CreativeWork
165 https://doi.org/10.1016/j.celrep.2016.02.017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045819470
166 rdf:type schema:CreativeWork
167 https://doi.org/10.1016/j.chembiol.2015.10.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016382220
168 rdf:type schema:CreativeWork
169 https://doi.org/10.1016/j.lfs.2017.06.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085858261
170 rdf:type schema:CreativeWork
171 https://doi.org/10.1016/j.nmd.2010.08.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039288585
172 rdf:type schema:CreativeWork
173 https://doi.org/10.1016/j.nmd.2016.12.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044952453
174 rdf:type schema:CreativeWork
175 https://doi.org/10.1016/j.omtm.2017.02.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084100067
176 rdf:type schema:CreativeWork
177 https://doi.org/10.1016/j.omtn.2018.02.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101350449
178 rdf:type schema:CreativeWork
179 https://doi.org/10.1016/s0002-9440(10)63160-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027715476
180 rdf:type schema:CreativeWork
181 https://doi.org/10.1016/s0092-8674(02)00907-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049624032
182 rdf:type schema:CreativeWork
183 https://doi.org/10.1038/mt.2014.141 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028620068
184 rdf:type schema:CreativeWork
185 https://doi.org/10.1073/pnas.0307228101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035701346
186 rdf:type schema:CreativeWork
187 https://doi.org/10.1074/jbc.c900007200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038824952
188 rdf:type schema:CreativeWork
189 https://doi.org/10.1074/jbc.m116.751917 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058215546
190 rdf:type schema:CreativeWork
191 https://doi.org/10.1074/jbc.m310614200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015727432
192 rdf:type schema:CreativeWork
193 https://doi.org/10.1083/jcb.122.4.809 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004016931
194 rdf:type schema:CreativeWork
195 https://doi.org/10.1083/jcb.200105003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041549639
196 rdf:type schema:CreativeWork
197 https://doi.org/10.1086/324412 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038265921
198 rdf:type schema:CreativeWork
199 https://doi.org/10.1093/emboj/18.4.863 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024393686
200 rdf:type schema:CreativeWork
201 https://doi.org/10.1093/glycob/cwp189 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032426657
202 rdf:type schema:CreativeWork
203 https://doi.org/10.1093/glycob/cwv021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048255830
204 rdf:type schema:CreativeWork
205 https://doi.org/10.1093/glycob/cwx062 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090494149
206 rdf:type schema:CreativeWork
207 https://doi.org/10.1093/hmg/10.25.2851 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037579944
208 rdf:type schema:CreativeWork
209 https://doi.org/10.1093/hmg/11.26.3319 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043692738
210 rdf:type schema:CreativeWork
211 https://doi.org/10.1093/hmg/ddq314 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046570555
212 rdf:type schema:CreativeWork
213 https://doi.org/10.1111/j.1750-3639.2008.00198.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1029151530
214 rdf:type schema:CreativeWork
215 https://doi.org/10.1126/science.1214115 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062465662
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1126/science.1239951 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062468282
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1128/jvi.79.22.14282-14296.2005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032519053
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1136/jmg.2003.013870 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008261766
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1136/jnnp.2007.141804 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034394064
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1212/01.wnl.0000058902.88181.3d schema:sameAs https://app.dimensions.ai/details/publication/pub.1064345079
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1677/joe-07-0309 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035928650
228 rdf:type schema:CreativeWork
229 https://doi.org/10.7554/elife.03941 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040303905
230 rdf:type schema:CreativeWork
231 https://doi.org/10.7554/elife.14473 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024474438
232 rdf:type schema:CreativeWork
233 https://www.grid.ac/institutes/grid.239494.1 schema:alternateName Carolinas Medical Center
234 schema:name McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, 28203, Charlotte, NC, USA
235 rdf:type schema:Organization
 




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


...