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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Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: American Society for Microbiology 2002
Teme:
Mammalian Genetic Models with Minimal or Complex Phenotypes
Online pristup: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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