Article
A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice.
Urolithiasis - 1 Dec 2022
Sasaki Hayato, Sasaki Takeru, Hiura Koki, Watanabe Masaki, Sasaki Nobuya
Abstract excerpt
Cystinuria is an autosomal metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes, encoding the amino acid transporter proteins rBAT and b0,+AT, respectively. Based on the causative gene, cystinuria is classified into 3 types: type A (SLC3A1), type B (SLC7A9), and type AB (SLC3A1 and SLC7A9). Patients with cystinuria exhibit hyperexcretion of cystine and dibasic amino acids in the urine and develop...
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