Ferran Rousaud

TL;DR: RBAT is established as a cystinuria gene, which involves the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine and nearly abolished the amino acid transport activity induced by rBAT in Xenopus oocytes.

TL;DR: The data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT, and a new transcript belonging to a family of light subunits of amino acid transporters is identified.

TL;DR: Digenic inheritance is an exception (two of 164 families) with a limited contribution to the aminoaciduria values (partial phenotype) in cystinuria, while for mixed probands analysis of both genes might be required, with priority given to SLC7A9.

TL;DR: It is demonstrated that a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption.

TL;DR: The data suggest that type I cystinuria is due to mutations in the SLC3A1 gene, whereas another locus is responsible for type III, which is classically considered as a multiallelic monogenic disease.