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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Bibliografiske detaljer

Udgivet i:	Mol Cell Biol
Principais autores:	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
Sprog:	Inglês
Udgivet:	Taylor & Francis 2002
Fag:	Mammalian Genetic Models with Minimal or Complex Phenotypes
Online adgang:	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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