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Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle
The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases. In lieu of a genetic cure, treatments to prevent or slow the progression of dysferlinopathy...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944681/ https://www.ncbi.nlm.nih.gov/pubmed/24639655 http://dx.doi.org/10.3389/fphys.2014.00089 |
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author | Kerr, Jaclyn P. Ward, Christopher W. Bloch, Robert J. |
author_facet | Kerr, Jaclyn P. Ward, Christopher W. Bloch, Robert J. |
author_sort | Kerr, Jaclyn P. |
collection | PubMed |
description | The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases. In lieu of a genetic cure, treatments to prevent or slow the progression of dysferlinopathy are of the utmost importance. Recent advances in the study of dysferlinopathy have highlighted the necessity for the maintenance of calcium handling in altering or slowing the progression of muscular degeneration resulting from the loss of dysferlin. This review highlights new evidence for a role for dysferlin at the transverse (t-) tubule of striated muscle, where it is involved in maintaining t-tubule structure and function. |
format | Online Article Text |
id | pubmed-3944681 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-39446812014-03-17 Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle Kerr, Jaclyn P. Ward, Christopher W. Bloch, Robert J. Front Physiol Physiology The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases. In lieu of a genetic cure, treatments to prevent or slow the progression of dysferlinopathy are of the utmost importance. Recent advances in the study of dysferlinopathy have highlighted the necessity for the maintenance of calcium handling in altering or slowing the progression of muscular degeneration resulting from the loss of dysferlin. This review highlights new evidence for a role for dysferlin at the transverse (t-) tubule of striated muscle, where it is involved in maintaining t-tubule structure and function. Frontiers Media S.A. 2014-03-06 /pmc/articles/PMC3944681/ /pubmed/24639655 http://dx.doi.org/10.3389/fphys.2014.00089 Text en Copyright © 2014 Kerr, Ward and Bloch. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Physiology Kerr, Jaclyn P. Ward, Christopher W. Bloch, Robert J. Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle |
title | Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle |
title_full | Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle |
title_fullStr | Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle |
title_full_unstemmed | Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle |
title_short | Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle |
title_sort | dysferlin at transverse tubules regulates ca(2+) homeostasis in skeletal muscle |
topic | Physiology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944681/ https://www.ncbi.nlm.nih.gov/pubmed/24639655 http://dx.doi.org/10.3389/fphys.2014.00089 |
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