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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Xehetasun bibliografikoak
Egile Nagusiak: Cherqui, Stéphanie, Sevin, Caroline, Hamard, Ghislaine, Kalatzis, Vasiliki, Sich, Mireille, Pequignot, Marie O., Gogat, Karïn, Abitbol, Marc, Broyer, Michel, Gubler, Marie-Claire, Antignac, Corinne
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Microbiology 2002
Gaiak:
Mammalian Genetic Models with Minimal or Complex Phenotypes
Sarrera elektronikoa: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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