Article
Selenocystine-based fluorescence assay combined with structural prediction for functional analysis of cystine transporter variants in cystinuria.
Journal of Zhejiang University. Science. B - 15 Jul 2026
He Xiaobai, Qian Xinyi, Zheng Xiaoguang, Zhang Hong, Shao Jinbang, Chen Xiaopan, Ruan Qi, Lyu Jianxin, Yang Leixiang, Chen Linjie
Abstract excerpt
OBJECTIVES: Cystine stones account for 1%‒2% of adult and up to 10% of pediatric kidney stones. They result from cystinuria, an autosomal recessive disorder caused by mutations in solute carrier family 3 member 1 (SLC3A1) and SLC7A9, which encode the renal cystine transporter subunits. These mutations impair cystine reabsorption, raising urinary cystine levels and driving stone formation. Current diagnostic...
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