Results 21 to 30 of about 459 (116)

Cystinosin, the protein defective in cystinosis, is a H+‐driven lysosomal cystine transporter [PDF]

The EMBO Journal, 2001
Cystinosis is an inherited lysosomal storage disease characterized by defective transport of cystine out of lysosomes. However, the causative gene, CTNS, encodes a seven transmembrane domain lysosomal protein, cystinosin, unrelated to known transporters.
V, Kalatzis, S, Cherqui, C, Antignac, B, Gasnier   +3 more
openaire   +3 more sources

Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report [PDF]

American Journal of Transplantation, 2018
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the defective transport of the amino acid cystine out of the lysosome due to a deficiency of cystinosin, the lysosomal cystine transporter. Patients have lysosomal cystine accumulation in various tissues, leading to cellular stress and damage, particularly in the kidney ...
Elmonem, Mohamed A., Veys, Koenraad, Arcolino, Fanny Oliveira, Van Dyck, Maria, Benedetti, Maria C., Diomedi-Camassei, Francesca, De Hertogh, Gert, van den Heuvel, Lambertus P., Renard, Marleen, Levtchenko, Elena   +9 more
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Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis [PDF]

Molecular and Cellular Biology, 2002
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.
Cherqui, Stéphanie, Sevin, Caroline, Hamard, Ghislaine, Kalatzis, Vasiliki, Sich, Mireille, Péquignot, Marie, Gogat, Karïn, Abitbol, Marc, Broyer, Michel, Gubler, Marie-Claire, Antignac, Corinne   +10 more
openaire   +4 more sources

Cystinosin regulates kidney inflammation through its interaction with galectin-3 [PDF]

bioRxiv, 2018
Abstract Inflammation is implicated in the pathogenesis of many disorders. Here, we show that cystinosin, protein defective in the lysosomal storage disorder cystinosis, is a critical regulator of galectin-3 during inflammation. Cystinosis is a lysosomal storage disorder and despite ubiquitous expression of cystinosin,
Lobry, Tatiana, Miller, Roy, Nevo, Nathalie, Rocca, Celine J., Zhang, Jinzhong, Catz, Sergio D., Moore, Fiona, Bailleux, Anne, Guerrera, Ida Chiara, Gubler, Marie-Claire, Wilson, Cheung W., Mak, Robert H., Montier, Tristan, Antignac, Corinne, Cherqui, Stephanie   +14 more
openaire   +2 more sources

Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells [PDF]

Pediatric Research, 2016
Nephropathic cystinosis is a lysosomal storage disease that is caused by mutations in the CTNS gene encoding a cystine/proton symporter cystinosin and an isoform cystinosin-LKG which is generated by an alternative splicing of exon 12. We have investigated the physiological role of the cystinosin-LKG that is widely expressed in epithelial tissues.We ...
Taranta, Anna, Bellomo, Francesco, Petrini, Stefania, Polishchuk, Elena, De Leo, Ester, Rega, Laura Rita, Pastore, Anna, Polishchuk, Roman, DE MATTEIS, Maria Antonietta, Emma, Francesco   +9 more
openaire   +4 more sources

The Targeting of Cystinosin to the Lysosomal Membrane Requires a Tyrosine-based Signal and a Novel Sorting Motif [PDF]

Journal of Biological Chemistry, 2001
Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine. Biochemical studies showed that the lysosomal cystine transporter was distinct from the plasma membrane cystine transporters and that it exclusively transported cystine.
S, Cherqui, V, Kalatzis, G, Trugnan, C, Antignac   +3 more
openaire   +3 more sources

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin [PDF]

Human Molecular Genetics, 2004
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
Vasiliki, Kalatzis, Nathalie, Nevo, Stéphanie, Cherqui, Bruno, Gasnier, Corinne, Antignac   +4 more
openaire   +3 more sources

Cystinosin/Ers1 functions in redox homeostasis in the early secretory pathway

bioRxiv
Abstract Cystinosis is an autosomal recessive inherited disorder caused by mutations in the CTNS gene, which encodes the highly conserved transmembrane protein cystinosin, a proton/cystine co-transporter at the lysosome membrane.
Julia Zhu, Sumanth Mosale Seetharam, Jade Bowerman, Solomon Baik, Katie Munechika, Nathan Wu, Aleksandra Skirycz, Haiyuan Yu, Miguel Piñeros, Richa Sardana   +9 more
openaire   +3 more sources

Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking. [PDF]

PLoS ONE, 2012
Classification of proteins into families based on remote homology often helps prediction of their biological function. Here we describe prediction of protein cargo receptors involved in vesicle formation and protein trafficking.
Vladimir Saudek
doaj   +2 more sources

Potential dual function of PQ-loop proteins such as cystinosin [PDF]

Journal of Biological Chemistry, 2017
Zhang et al. (1) demonstrate convincingly that cystinosin has a dual function. In addition to its low-molecular-weight solute transport, it participates in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, a protein ...
V. Saudek
openaire   +3 more sources