A novel mutation impairing the tertiary structure and stability of γ C-Crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens

Human Mutation

Volumn 33, Issue 2, 2012, Pages 391-401

  Li, Xiao Qiao ^a,b   Cai, Hong Chen ^c   Zhou, Shi Yi ^a,b   Yang, Ju Hua ^d   Xi, Yi Bo ^c,e   Gao, Xiao Bo ^a,b   Zhao, Wei Jie ^c   Li, Peng ^b   Zhao, Guang Yu ^f   Tong, Yi ^f   Bao, Fan Chen ^c   Ma, Yan ^a,b   Wang, Sha ^c   Yan, Yong Bin ^c   Lu, Cai Ling ^a,b   Ma, Xu ^a,b  

^a GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c TSINGHUA UNIVERSITY   (China)

^d FUJIAN MEDICAL UNIVERSITY   (China)

^e LANZHOU UNIVERSITY   (China)

^f Fuzhou Southeast Eye Hospital   (China)

Author keywords

C crystallin; Cataract; Crygc; Protein stability; Zebrafish

Indexed keywords

CYSTEINE; GAMMA CRYSTALLIN; GLYCINE; HYDROGEN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CATARACT; CATARACTOGENESIS; CODON; CONTROLLED STUDY; GENE MUTATION; HEAT; HUMAN; HYDROGEN BOND; MOLECULAR MODEL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN STABILITY; PROTEIN STRUCTURE; SPECTROSCOPY; STORAGE; ULTRAVIOLET IRRADIATION; ZEBRA FISH;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CATARACT; CHILD; FEMALE; GAMMA-CRYSTALLINS; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STABILITY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; ZEBRAFISH;

DANIO RERIO;

EID: 84857789606     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21648     Document Type: Article

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