The Calsequestrin Mutation CASQ2(D307H) Does Not Affect Protein Stability and Targeting to the Junctional Sarcoplasmic Reticulum but Compromises Its Dynamic Regulation of Calcium Buffering

Mutations in cardiac ryanodine receptor (RYR2) and cardiac calsequestrin (CASQ2) genes are linked to catecholaminergic polymorphic ventricular tachycardia, a life-threatening genetic disease. They predispose young individuals to cardiac arrhythmia in the absence of structural abnormalities. One such...

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Bibliografiset tiedot
Päätekijät: Kalyanasundaram, Anuradha, Bal, Naresh C., Franzini-Armstrong, Clara, Knollmann, Björn C., Periasamy, Muthu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Biochemistry and Molecular Biology 2010
Aiheet:
Protein Synthesis, Post-Translational Modification, and Degradation
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2823443/
https://ncbi.nlm.nih.gov/pubmed/19920148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.053892
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