GNE myopathy: from clinics and genetics to pathology and research strategies

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• dc.contributor.author Pogoryelova, Oksana
• dc.contributor.author González Coraspe, José Andrés
• dc.contributor.author Nikolenko, Nikoletta
• dc.contributor.author Lochmüller, Hanns
• dc.contributor.author Roos, Andreas
• dc.date.accessioned 2019-11-28T08:29:15Z
• dc.date.available 2019-11-28T08:29:15Z
• dc.date.issued 2018
• dc.description.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.
• dc.description.sponsorship We gratefully acknowledge the financial support from the Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen. Work by the authors has been supported by the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement No. 305444 (RD-Connect) and 305121 (NeurOmics). This work was further supported by a grant from the DGM (Deutsche Gesellschaft für Muskelkranke).
• dc.format.mimetype application/pdf
• dc.identifier.citation Pogoryelova O, González Coraspe JA, Nikolenko N, Lochmüller H, Roos A. GNE myopathy: from clinics and genetics to pathology and research strategies. Orphanet J Rare Dis. 2018; 13(1):70. DOI 10.1186/s13023-018-0802-x
• dc.identifier.doi http://dx.doi.org/10.1186/s13023-018-0802-x
• dc.identifier.issn 1750-1172
• dc.identifier.uri http://hdl.handle.net/10230/43027
• dc.language.iso eng
• dc.publisher BioMed Central
• dc.relation.ispartof Orphanet J Rare Dis. 2018; 13(1):70
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305444
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305121
• dc.rights © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword GNE myopathy
• dc.subject.keyword Distal myopathy
• dc.subject.keyword Sialic acid
• dc.subject.keyword Nonaka disease
• dc.subject.keyword HIBM
• dc.subject.keyword QSM
• dc.subject.keyword DMRV
• dc.title GNE myopathy: from clinics and genetics to pathology and research strategies
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion