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Article

Cataract-causing mutations S78F and S78P of γD-crystallin decrease protein conformational stability and drive aggregation.

International journal of biological macromolecules - 31 Dec 2023

Lin Ningqin, Zhang Ying, Song Xiaohui, Xu Jingjie, Luo Chenqi, Tian Qing, Yao Ke, Wu Wei, Chen Xiangjun, Hu Lidan

Abstract excerpt

Congenital cataract is the leading cause of childhood blindness, which primarily results from genetic factors. γD-crystallin is the most abundant γ-crystallin and is essential for maintaining lens transparency and refractivity. Numerous mutations in γD-crystallin have been reported with unclear pathogenic mechanism. Two different cataract-causing mutations Ser78Phe and Ser78Pro in γD-crystallin were previously...

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Source

Identifiers

PMID: 37739288
DOI: 10.1016/j.ijbiomac.2023.126910

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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