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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Главные авторы: Cherqui, Stéphanie, Sevin, Caroline, Hamard, Ghislaine, Kalatzis, Vasiliki, Sich, Mireille, Pequignot, Marie O., Gogat, Karïn, Abitbol, Marc, Broyer, Michel, Gubler, Marie-Claire, Antignac, Corinne
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Microbiology 2002
Предметы:
Mammalian Genetic Models with Minimal or Complex Phenotypes
Online-ссылка: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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