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Article

βA4-Crystallin Mutations Disrupt Structural Stability and Crystallin Interactions in Congenital Cataract Pathogenesis.

Investigative ophthalmology & visual science - 2 Mar 2026

Lin Xiaoshan, Deng Shasha, Li Wenqian, Vendra Venkata Pulla Rao, Yang Jinyu, Zhang Xulin, Qin Tinfeng, Xu Zhihao, Liu Muziying, Hejtmancik J Fielding, Jin Tengchuan, Wang Qiwei

Abstract excerpt

Purpose: Mutations in the crystallin beta A4 (CRYBA4) gene, which encodes βA4-crystallin, are associated with congenital cataract; yet, the underlying pathogenic mechanisms remain elusive. We systematically investigated four cataract-associated βA4-crystallin mutants (βA4-Y67N, βA4-L69P, βA4-F94S, and βA4-G147V), each representing distinct structural contexts, to assess their effects on structural destabilization...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41823501
DOI: 10.1167/iovs.67.3.29
PMCID: PMC13001829

Genes

CRYBA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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