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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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Detalles Bibliográficos
Autores principales: Fukuzawa, Atsushi, Koch, Daniel, Grover, Sarah, Rees, Martin, Gautel, Mathias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188405/
https://www.ncbi.nlm.nih.gov/pubmed/33438037
http://dx.doi.org/10.1093/hmg/ddab010