Article
S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.
The Biochemical journal - 15 Mar 2010
Woo Jin Seok, Hwang Ji-Hye, Ko Jae-Kyun, Weisleder Noah, Kim Do Han, Ma Jianjie, Lee Eun Hui
Abstract excerpt
JPs (junctophilins) contribute to the formation of junctional membrane complexes in muscle cells by physically linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes. In humans with HCM (hypertrophic cardiomyopathy), mutations in JP2 are linked to altered Ca2+ signalli...
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