Results 11 to 20 of about 459 (116)

Cystinosin deficient rats recapitulate the phenotype of nephropathic cystinosis [PDF]

bioRxiv, 2021
Abstract Background The lysosomal storage disease cystinosis is caused by mutations in CTNS , encoding a cystine transporter, and in its severest form leads to proximal tubule dysfunction followed by kidney failure.
Jennifer A Hollywood, Prasanna K Kallingappa, Pang Yuk Cheung, Renita M Martis, Sree Sreebhavan, Aparajita Chatterjee, Emma J Buckels, Brya G Mathews, Paula M Lewis, Alan J Davidson   +9 more
openaire   +2 more sources

A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin [PDF]

Scientific Reports, 2018
AbstractCystinosin, a lysosomal transporter is involved in the efflux of cystine from the lysosome to the cytosol. Mutations in the human cystinosin gene (CTNS) cause cystinosis, a recessive autosomal disorder. Studies on cystinosin have been limited by the absence of a robust genetic screen.
Deshpande, Anup Arunrao, Shukla, Anuj, Bachhawat, Anand Kumar   +2 more
openaire   +3 more sources

Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction [PDF]

Nephrology Dialysis Transplantation, 2018
Abstract Background Bone impairment is a poorly described complication of nephropathic cystinosis (NC). The objectives of this study were to evaluate in vitro effects of cystinosin (CTNS) mutations on bone resorption and of cysteamine treatment on bone cells [namely human osteoclasts (OCs) and ...
Claramunt-Taberner, Debora, Flammier, Sacha, Gaillard, Ségolène, Cochat, Pierre, Peyruchaud, Olivier, Machuca-Gayet, Irma, Bacchetta, Justine   +6 more
openaire   +4 more sources

Ca2+ signalling in human proximal tubular epithelial cells deficient for cystinosin [PDF]

Cell Calcium, 2016
Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder caused by loss-of-function mutations in the CTNS gene coding for the lysosomal cystine transporter, cystinosin. Recent studies have demonstrated that, apart from cystine accumulation in the lysosomes, cystinosin-deficient cells, especially renal proximal tubular epithelial ...
Ivanova, E.A., Elmonem, M.A., Bongaerts, I., Luyten, T., Missiaen, L., van den Heuvel, L.P.W.J., van den Heuvel, L.P.W.J., Levtchenko, E.N., Bultynck, G.   +8 more
openaire   +5 more sources

Regulation of neutrophil secretion by the lysosomal amino acid transporter, cystinosin

The FASEB Journal, 2020
Neutrophil exocytosis is an important immune response, but secretion must be tightly regulated because exacerbated release of the neutrophil toxic mediators is injurious to the host and mediates inflammation.
Raquel D. Carvalho-Gontijo, Jennifer L. Johnson, Sergio D. Catz   +2 more
openaire   +2 more sources

Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility [PDF]

Kidney International, 2016
The involvement of the glomerulus in the pathogenesis of cystinosis, caused by loss-of-function mutations in cystinosin (CTNS, 17p13), is a matter of controversy. Although patients with cystinosis demonstrate glomerular lesions and high-molecular-weight proteinuria starting from an early age, a mouse model of cystinosis develops only signs of proximal ...
Ivanova, E.A., Arcolino, F.O., Elmonem, M.A., Rastaldi, M.P., Giardino, L., Cornelissen, E.M., van den Heuvel, L.P.W.J., van den Heuvel, L.P.W.J., Levtchenko, E.N.   +8 more
openaire   +4 more sources

Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin [PDF]

Proceedings of the National Academy of Sciences, 2012
Secondary active transporters use electrochemical gradients provided by primary ion pumps to translocate metabolites or drugs “uphill” across membranes. Here we report the ion-coupling mechanism of cystinosin, an unusual eukaryotic, proton-driven transporter distantly related to the proton pump bacteriorhodopsin.
Ruivo R, Bellenchi GC, Chen X, Zifarelli G, Sagné C, Debacker C, Pusch M, Supplisson S, Gasnier B   +8 more
openaire   +6 more sources

Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells

EMBO Reports
Cystinosis is a systemic lysosomal storage disease resulting from mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, leading to cystine accumulation in all organs.
Veenita Khare, Jean-Claude Farré, Mouad Ait Kbaich, Céline J Rocca, Cynthia Tang, Xuan Ma, Kavya Biederman, Ioli Mathur, Rafael A Badell-Grau, Anusha Sivakumar, Rola Chen, Sergio D Catz, Stephanie Cherqui   +12 more
doaj   +2 more sources

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis [PDF]

Kidney International, 2019
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β-galactosidase binding protein family, during inflammation.
Lobry, Tatiana, Miller, Roy, Nevo, Nathalie, Rocca, Celine, Zhang, Jinzhong, Catz, Sergio, Moore, Fiona, Thomas, Lucie, Pouly, Daniel, Bailleux, Anne, Guerrera, Ida, Gubler, Marie-Claire, Cheung, Wai, Mak, Robert, Montier, Tristan, Antignac, Corinne, Cherqui, Stephanie   +16 more
openaire   +6 more sources

Author Correction: A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin [PDF]

Scientific Reports, 2019
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Deshpande, Anup Arunrao, Shukla, Anuj, Bachhawat, Anand Kumar   +2 more
openaire   +2 more sources