Article
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
Human molecular genetics - 1 Jul 2004
Kalatzis Vasiliki, Nevo Nathalie, Cherqui Stéphanie, Gasnier Bruno, Antignac Corinne
Abstract excerpt
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three clinical forms (infantile, juvenile and ocular cystinosis) have been described according to the age of onset and severity of the symptoms. The causative gene, CTNS, encodes a seven transmembrane domain protein, cystinosin, which we recently identified as a H+-driven cystine transporter using an in vitro transport...
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