GNE myopathy: from clinics and genetics to pathology and research strategies View Full Text


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Article Info

DATE

2018-05-02

AUTHORS

Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos

ABSTRACT

GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved forward understanding of GNE myopathy mechanisms and suggested therapeutic interventions to alleviate the symptoms. Multiple therapeutic attempts are being made to supplement sialic acid depleted in GNE myopathy muscle cells. Translational research field provided valuable knowledge through natural history studies, patient registries and clinical trial, which significantly contributed to bringing forward an era of GNE myopathy treatment. In this review, we are summarising current GNE myopathy, scientific trends and open questions, which would be of significant interest for a wide neuromuscular diseases community. More... »

PAGES

70

References to SciGraph publications

  • 2016-11-10. Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele in JOURNAL OF HUMAN GENETICS
  • 2016-03-29. The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant in MOLECULAR NEUROBIOLOGY
  • 2001-08-27. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy in NATURE GENETICS
  • 2008-10-01. The hereditary inclusion body myopathy enigma and its future therapy in NEUROTHERAPEUTICS
  • 2015-05-15. GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis in MOLECULAR NEUROBIOLOGY
  • 2007-08-03. Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events in CELL DEATH & DIFFERENTIATION
  • 2013-03-12. Cell stress molecules in the skeletal muscle of GNE myopathy in BMC NEUROLOGY
  • 2014-01-29. Role of UDP-N-Acetylglucosamine2-Epimerase/N-Acetylmannosamine Kinase (GNE) in β1-Integrin-Mediated Cell Adhesion in MOLECULAR NEUROBIOLOGY
  • 2015-05-13. Genetics of GNE myopathy in the non-Jewish Persian population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-05-17. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model in NATURE MEDICINE
  • 2012-01-10. Muscle imaging findings in GNE myopathy in JOURNAL OF NEUROLOGY
  • 2012-12-13. Variable Phenotypes of Knockin Mice Carrying the M712T Gne Mutation in NEUROMOLECULAR MEDICINE
  • 2017-01-10. Reduced serum myostatin concentrations associated with genetic muscle disease progression in JOURNAL OF NEUROLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13023-018-0802-x

    DOI

    http://dx.doi.org/10.1186/s13023-018-0802-x

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29720219


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