Article
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.
Molecular and cellular biology - 1 Nov 2002
Cherqui Stéphanie, Sevin Caroline, Hamard Ghislaine, Kalatzis Vasiliki, Sich Mireille, Pequignot Marie O, Gogat Karïn, Abitbol Marc, Broyer Michel, Gubler Marie-Claire, Antignac Corinne
Abstract excerpt
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 cystinosis, the infantile form, appears around 6 to 12 months, with a proximal tubulopathy (de Toni-Debré-Fanconi syndrome)...
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