γ S 晶状体蛋白中的一种新的 F30S 突变通过增加对压力的敏感性而导致常染色体显性先天性核性白内障。
关键词: Autosomal dominant congenital cataract Fluorescence quenching Protein aggregation Protein stability γS-Crystallin
Mesh : Adolescent Amino Acid Sequence Amino Acid Substitution Animals Cataract / congenital genetics pathology Child, Preschool Family Female Humans Kinetics Male Models, Molecular Mutation Pedigree Protein Aggregates / genetics Protein Conformation, alpha-Helical Protein Conformation, beta-Strand Protein Interaction Domains and Motifs Protein Stability Protein Unfolding Sequence Alignment Sequence Homology, Amino Acid Stress, Physiological / genetics Thermodynamics gamma-Crystallins / chemistry genetics metabolism
来 源:
DOI:10.1016/j.ijbiomac.2021.01.079
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