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Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin.

Biochimica et biophysica acta. General subjects - 1 Apr 2024

Somee Leila Rezaei, Barati Anis, Shahsavani Mohammad Bagher, Hoshino Masaru, Hong Jun, Kumar Ashutosh, Moosavi-Movahedi Ali Akbar, Amanlou Massoud, Yousefi Reza

Abstract excerpt

αB-crystallin, a member of the small heat shock protein (sHSP) family, is expressed in diverse tissues, including the eyes, brain, muscles, and heart. This protein plays a crucial role in maintaining eye lens transparency and exhibits holdase chaperone and anti-apoptotic activities. Therefore, structural and functional changes caused by genetic mutations in this protein may contribute to the development of...

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PMID: 38307443
DOI: 10.1016/j.bbagen.2024.130579

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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