Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
 
ID 1196795
Author(s) Ullrich, N. D.; Fischer, D.; Kornblum, C.; Walter, M. C.; Niggli, E.; Zorzato, F.; Treves, S.
Author(s) at UniBasel Fischer, Dirk
Treves, Susan
Year 2011
Title Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle
Journal Human Mutation
Volume 32
Number 3
Pages / Article-Number 309-17
Keywords caveolin-3, CAV3, rippling muscle disease, excitation-contraction coupling, excitation coupled Ca2+ entry, Ca2+ homeostasis, TIRF microscopy
Abstract Rippling muscle disease is caused by mutations in the gene encoding caveolin-3 (CAV3), the muscle-specific isoform of the scaffolding protein caveolin, a protein involved in the formation of caveolae. In healthy muscle, caveolin-3 is responsible for the formation of caveolae, which are highly organized sarcolemmal clusters influencing early muscle differentiation, signalling and Ca(2+) homeostasis. In the present study we examined Ca(2+) homeostasis and excitation-contraction (E-C) coupling in cultured myotubes derived from two patients with Rippling muscle disease with severe reduction in caveolin-3 expression; one patient harboured the heterozygous c.84C
Publisher Wiley
ISSN/ISBN 1059-7794 ; 1098-1004
edoc-URL http://edoc.unibas.ch/dok/A6006957
Full Text on edoc Available
Digital Object Identifier DOI 10.1002/humu.21431
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/21294223
ISI-Number WOS:000288034100008
Document type (ISI) Journal Article
 
   

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