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Article

A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.

PloS one - 1 Jan 2013

Chen Weirong, Chen Xiaoyun, Hu Zhengmao, Lin Haotian, Zhou Fengqi, Luo Lixia, Zhang Xinyu, Zhong Xiaojian, Yang Ye, Wu Changrui, Lin Zhuoling, Ye Shaobi, Liu Yizhi

Abstract excerpt

Congenital cataract is a major cause of visual impairment and childhood blindness. The solubility and stability of crystallin proteins play critical roles in maintaining the optical transparency of the lens during the life span. Previous studies have shown that approximately 8.3%~25% of congenital cataracts are inherited, and mutations in crystallins are the most common. In this study, we attempted to identify...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Epithelial Cells

Share to Lens, Crystalline

Share to Mutation, Missense

Share to Protein Aggregates

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Source

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Identifiers

PMID: 24312286
DOI: 10.1371/journal.pone.0081290
PMCID: PMC3842955

Genes

CRYBB2

Provenance

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A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.PMID 24312286Read ↗

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