Articles with "r157c mutation" as a keyword



Structural and functional consequences of the cardiomyopathy‐associated p.R157C mutation in the C‐terminal palindromic motif of human αB‐crystallin

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Published in 2025 at "FEBS Letters"

DOI: 10.1002/1873-3468.70043

Abstract: αB‐crystallin, a small heat shock protein, is crucial for maintaining lenticular transparency and prevents protein aggregation as a molecular chaperone in various tissues. Mutations in αB‐crystallin can lead to diseases such as cataracts, cardiomyopathy, and… read more here.

Keywords: crystallin; motif; mutation; r157c mutation ... See more keywords