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

Human Molecular Genetics

Volumn 17, Issue 12, 2008, Pages 1845-1854

  Bartoccioni, Paola ^a,b,c   Rius, Mònica ^a,b   Zorzano, Antonio ^a,b   Palacín, Manuel ^a,b,c   Chillarón, Josep ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUTE FOR RESEARCH IN BIOMEDICINE   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CALNEXIN; CHAPERONE; HETERODIMER; MEMBRANE PROTEIN; MEMBRANE PROTEIN RBAT;

ANIMAL CELL; ARTICLE; BIOGENESIS; CONTROLLED STUDY; CYSTINURIA; CYSTINURIA TYPE 1; ENDOPLASMIC RETICULUM; GENE MUTATION; GENE TRANSFER; HUMAN; HUMAN CELL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DEFECT; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN GLYCOSYLATION; WILD TYPE;

AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CYSTINURIA; DIMERIZATION; HELA CELLS; HUMANS; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT;

EID: 44849084165     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn080     Document Type: Article

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