CRF grant “Molecular study of lysosomal transporters involved in the cystine- depleting effect of cysteamine”
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چکیده
The long-term objective of this grant is to identify the membrane transporters underlying the cystine-depleting effect of cysteamine as this would provide a rationale to improve its efficiency or discover more efficient, better tolerated drugs. According to the current model of cysteamine therapy, cystine depletion is mediated by an unknown cationic amino acid transporter, which exports a mixed disulfide of cysteine and cysteamine from the lysosomal lumen.
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CRF grant “Molecular study of lysosomal transporters involved in the cystine‐depleting effect of cysteamine”
transporters involved in the cystine‐depleting effect of cysteamine” Progress Report‐ January 2013 Principal investigators: Bruno Gasnier, Ph.D. (Paris) Ellen Closs, Ph.D. (Mainz) The long‐term objective of this grant is to identify the membrane transporters underlying the cystine‐ depleting effect of cysteamine as this would provide a rationale to improve its efficiency or discover more eff...
متن کاملCRF grant ‘Identification and characterization of the lysosomal transporter involved in cysteamine-mediated cysteine efflux’
We previously identified several members of the SLC7 transporter family as potential system c transporters based on immunofluorescence data and, for functionally characterized members, on cysteamine-cysteine competition experiments. CAT2A, CAT2B, an orphan CAT-like protein named SLC7A14 and, to a lesser extent, CAT1 appeared as good system c candidates. However, it is still unknown which of the...
متن کاملLAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis.
Defective catabolite export from lysosomes results in lysosomal storage diseases in humans. Mutations in the cystine transporter gene CTNS cause cystinosis, but other lysosomal amino acid transporters are poorly characterized at the molecular level. Here, we identified the Caenorhabditis elegans lysosomal lysine/arginine transporter LAAT-1. Loss of laat-1 caused accumulation of lysine and argin...
متن کاملCystinosis: a review
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys ...
متن کاملSwallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.
Nephropathic cystinosis is a rare, autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene that codes for a cystine transporter in the lysosomal membrane. Affected patients store 50-100 times the normal amounts of cystine in their cells, and suffer renal tubular and glomerular disease, growth retardation, photophobia, and other systemic complications, including a myo...
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تاریخ انتشار 2012