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Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet
Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal manner. One of the major repair complex is a dysferlin-dependent mechanism. Accordingly, mutations in the...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836414/ https://www.ncbi.nlm.nih.gov/pubmed/29480214 http://dx.doi.org/10.3233/JND-170251 |
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author | Barthélémy, Florian Defour, Aurélia Lévy, Nicolas Krahn, Martin Bartoli, Marc |
author_facet | Barthélémy, Florian Defour, Aurélia Lévy, Nicolas Krahn, Martin Bartoli, Marc |
author_sort | Barthélémy, Florian |
collection | PubMed |
description | Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal manner. One of the major repair complex is a dysferlin-dependent mechanism. Accordingly, mutations in the DYSF gene encoding dysferlin results in the development of several muscle pathologies called dysferlinopathies, where abnormalities of the membrane repair process have been characterized in patients and animal models. Recent efforts have been deployed to decipher the function of dysferlin, they shed light on its direct implication in sarcolemma resealing after injuries. These discoveries served as a strong ground to design therapeutic approaches for dysferlin-deficient patients. This review detailed the different partners and function of dysferlin and positions the sarcolemma repair in normal and pathological conditions. |
format | Online Article Text |
id | pubmed-5836414 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | IOS Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-58364142018-03-07 Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet Barthélémy, Florian Defour, Aurélia Lévy, Nicolas Krahn, Martin Bartoli, Marc J Neuromuscul Dis Review Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal manner. One of the major repair complex is a dysferlin-dependent mechanism. Accordingly, mutations in the DYSF gene encoding dysferlin results in the development of several muscle pathologies called dysferlinopathies, where abnormalities of the membrane repair process have been characterized in patients and animal models. Recent efforts have been deployed to decipher the function of dysferlin, they shed light on its direct implication in sarcolemma resealing after injuries. These discoveries served as a strong ground to design therapeutic approaches for dysferlin-deficient patients. This review detailed the different partners and function of dysferlin and positions the sarcolemma repair in normal and pathological conditions. IOS Press 2018-02-21 /pmc/articles/PMC5836414/ /pubmed/29480214 http://dx.doi.org/10.3233/JND-170251 Text en © 2018 – IOS Press and the authors. All rights reserved https://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Barthélémy, Florian Defour, Aurélia Lévy, Nicolas Krahn, Martin Bartoli, Marc Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet |
title | Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet |
title_full | Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet |
title_fullStr | Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet |
title_full_unstemmed | Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet |
title_short | Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet |
title_sort | muscle cells fix breaches by orchestrating a membrane repair ballet |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836414/ https://www.ncbi.nlm.nih.gov/pubmed/29480214 http://dx.doi.org/10.3233/JND-170251 |
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