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

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 t...

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Autores: Pogoryelova, Oksana, González Coraspe, José Andrés, Nikolenko, Nikoletta, Lochmüller, Hanns, Roos, Andreas
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/43027
Acceso en línea:http://hdl.handle.net/10230/43027
http://dx.doi.org/10.1186/s13023-018-0802-x
Access Level:acceso abierto
Palabra clave:GNE myopathy
Distal myopathy
Sialic acid
Nonaka disease
HIBM
QSM
DMRV
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spelling GNE myopathy: from clinics and genetics to pathology and research strategiesPogoryelova, OksanaGonzález Coraspe, José AndrésNikolenko, NikolettaLochmüller, HannsRoos, AndreasGNE myopathyDistal myopathySialic acidNonaka diseaseHIBMQSMDMRVGNE 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.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).BioMed Central201920192018info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/43027http://dx.doi.org/10.1186/s13023-018-0802-xreponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésOrphanet J Rare Dis. 2018; 13(1):70info:eu-repo/grantAgreement/EC/FP7/305444info:eu-repo/grantAgreement/EC/FP7/305121© 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.http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/430272026-06-12T07:21:37Z
dc.title.none.fl_str_mv GNE myopathy: from clinics and genetics to pathology and research strategies
title GNE myopathy: from clinics and genetics to pathology and research strategies
spellingShingle GNE myopathy: from clinics and genetics to pathology and research strategies
Pogoryelova, Oksana
GNE myopathy
Distal myopathy
Sialic acid
Nonaka disease
HIBM
QSM
DMRV
title_short GNE myopathy: from clinics and genetics to pathology and research strategies
title_full GNE myopathy: from clinics and genetics to pathology and research strategies
title_fullStr GNE myopathy: from clinics and genetics to pathology and research strategies
title_full_unstemmed GNE myopathy: from clinics and genetics to pathology and research strategies
title_sort GNE myopathy: from clinics and genetics to pathology and research strategies
dc.creator.none.fl_str_mv Pogoryelova, Oksana
González Coraspe, José Andrés
Nikolenko, Nikoletta
Lochmüller, Hanns
Roos, Andreas
author Pogoryelova, Oksana
author_facet Pogoryelova, Oksana
González Coraspe, José Andrés
Nikolenko, Nikoletta
Lochmüller, Hanns
Roos, Andreas
author_role author
author2 González Coraspe, José Andrés
Nikolenko, Nikoletta
Lochmüller, Hanns
Roos, Andreas
author2_role author
author
author
author
dc.subject.none.fl_str_mv GNE myopathy
Distal myopathy
Sialic acid
Nonaka disease
HIBM
QSM
DMRV
topic GNE myopathy
Distal myopathy
Sialic acid
Nonaka disease
HIBM
QSM
DMRV
description 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.
publishDate 2018
dc.date.none.fl_str_mv 2018
2019
2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/43027
http://dx.doi.org/10.1186/s13023-018-0802-x
url http://hdl.handle.net/10230/43027
http://dx.doi.org/10.1186/s13023-018-0802-x
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Orphanet J Rare Dis. 2018; 13(1):70
info:eu-repo/grantAgreement/EC/FP7/305444
info:eu-repo/grantAgreement/EC/FP7/305121
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
repository.name.fl_str_mv
repository.mail.fl_str_mv
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