Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis

Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine. The causative gene, CTNS, encodes cystinosin, a seven-transmembrane-domain protein, which we recently showed to be a lysosomal cystine transporter. The most severe and frequent form of cystinosi...

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Autors principals: Cherqui, Stéphanie, Sevin, Caroline, Hamard, Ghislaine, Kalatzis, Vasiliki, Sich, Mireille, Pequignot, Marie O., Gogat, Karïn, Abitbol, Marc, Broyer, Michel, Gubler, Marie-Claire, Antignac, Corinne
Format: Artigo
Idioma:Inglês
Publicat: American Society for Microbiology 2002
Matèries:
Mammalian Genetic Models with Minimal or Complex Phenotypes
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC135682/
https://ncbi.nlm.nih.gov/pubmed/12370309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.22.21.7622-7632.2002
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