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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Vydáno v:	Mol Cell Biol
Hlavní autoři:	Cherqui, Stéphanie, Sevin, Caroline, Hamard, Ghislaine, Kalatzis, Vasiliki, Sich, Mireille, Pequignot, Marie O., Gogat, Karïn, Abitbol, Marc, Broyer, Michel, Gubler, Marie-Claire, Antignac, Corinne
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Taylor & Francis 2002
Témata:	Mammalian Genetic Models with Minimal or Complex Phenotypes
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC135682/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12370309/ https://ncbi.nlm.nih.govhttps://doi.org/10.1128/MCB.22.21.7622-7632.2002
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