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Article

Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype

10 Mar 2008

Abstract excerpt

Most mutations in the rBAT subunit of the heterodimeric cystine transporter rBAT-b(0,+)AT cause type I cystinuria. Trafficking of the transporter requires the intracellular assembly of the two subunits. Without its partner, rBAT, but not b(0,+)AT, is rapidly degraded. We analyzed the initial biogenesis of wild-type rBAT and type I cystinuria rBAT mutants. rBAT was degraded, at least in part, via the ERAD pathway....

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PMID: 18332091
DOI: 10.1093/hmg/ddn080

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