Načítá se...

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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Hum Mol Genet
Hlavní autoři: Fukuzawa, Atsushi, Koch, Daniel, Grover, Sarah, Rees, Martin, Gautel, Mathias
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!