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When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein–protein interactions and protein stability

Obscurin is a giant muscle protein that connects the sarcomere with the sarcoplasmic reticulum, and has poorly understood structural and signalling functions. Increasingly, obscurin variants are implicated in the pathophysiology of cardiovascular diseases. The Arg4344Gln variant (R4344Q) in obscurin...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Fukuzawa, Atsushi, Koch, Daniel, Grover, Sarah, Rees, Martin, Gautel, Mathias
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8188405/
https://ncbi.nlm.nih.gov/pubmed/33438037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab010
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