Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies

Congenital cataracts, which are genetically heterogeneous eye disorders, lead to visual impairment in childhood. In our previous study, we identified a novel mutation in exon 4 of the CRYBA1/BA3 gene, which resulted in the deletion of a highly conserved glycine at codon 91 (G91del) and perinuclear z...

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Veröffentlicht in:	International journal of biological macromolecules 2021-10, Vol.189, p.44-52
Hauptverfasser:	Xu, Jingjie, Wang, Huaxia, Wu, Chengpeng, Wang, Ailing, Wu, Wei, Xu, Jia, Luo, Chenqi, Ni, Shuang, Yao, Ke, Chen, Xiangjun
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyloid fiber aggregation Apoptosis - drug effects beta-Crystallin A Chain - chemistry beta-Crystallin A Chain - genetics beta-Crystallin A Chain - ultrastructure Cataract - congenital Cataract - genetics Cataract-causing mutation Cell Line Cellular apoptosis CRYBA1/A3 Genetic Predisposition to Disease Guanidine - pharmacology Humans Hydrophobic and Hydrophilic Interactions Intermediate states in protein folding Lanosterol Lanosterol - pharmacology Mutant Proteins - chemistry Mutant Proteins - metabolism Mutation - genetics Protein Aggregates - drug effects Protein Denaturation Temperature
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