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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...

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Autores principales: Barthélémy, Florian, Defour, Aurélia, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2018
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.
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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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