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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Detalhes bibliográficos

Publicado no:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Taylor & Francis 2002
Assuntos:	Mammalian Genetic Models with Minimal or Complex Phenotypes
Acesso em linha:	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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