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Skeletal muscle CaV1.1 channelopathies
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Description
<jats:title>Abstract</jats:title><jats:p>Ca<jats:sub>V</jats:sub>1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type calcium channel. Consequently, all known Ca<jats:sub>V</jats:sub>1.1-related diseases are muscle diseases and the molecular and cellular disease mechanisms relate to the dual functions of Ca<jats:sub>V</jats:sub>1.1 in this tissue. To date, four types of muscle diseases are known that can be linked to mutations in the <jats:italic>CACNA1S</jats:italic> gene or to splicing defects. These are hypo- and normokalemic periodic paralysis, malignant hyperthermia susceptibility, Ca<jats:sub>V</jats:sub>1.1-related myopathies, and myotonic dystrophy type 1. In addition, the Ca<jats:sub>V</jats:sub>1.1 function in EC coupling is perturbed in Native American myopathy, arising from mutations in the Ca<jats:sub>V</jats:sub>1.1-associated protein STAC3. Here, we first address general considerations concerning the possible roles of Ca<jats:sub>V</jats:sub>1.1 in disease and then discuss the state of the art regarding the pathophysiology of the Ca<jats:sub>V</jats:sub>1.1-related skeletal muscle diseases with an emphasis on molecular disease mechanisms.</jats:p>
Journal
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- Pflügers Archiv - European Journal of Physiology
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Pflügers Archiv - European Journal of Physiology 472 (7), 739-754, 2020-03-28
Springer Science and Business Media LLC
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Details 詳細情報について
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- CRID
- 1360576122213862016
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- ISSN
- 14322013
- 00316768
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- Data Source
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- Crossref