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ProteomicsCystinosin turnover - Impact of cystinosin glycosylation on protein stability by differential dynamic SILAC
Cystinosis is a rare autosomal recessive lysosomal storage disorder, characterized by an intra-Cystinosis is a rare autosomal recessive lysosomal storage disorder, characterized by an intra-lysosomal accumulation of cystine. The causative gene for cystinosis is CTNS, which encodes the protein cystin...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2017-01-16 | PXD005357 | Pride
Cystinosis Er retention Dynamic silac Turnover Cystinosin 
ProteomicsCystinosin interactomics - Impact of cystinosin glycosylation on protein stability by differential dynamic SILAC
Cystinosis is a rare autosomal recessive lysosomal storage disorder, characterized by an intra-lysosomal accumulation of cystine. The causative gene for cystinosis is CTNS, which encodes the protein cystinosin, a lysosomal proton-driven cystine transporter. Over 100 mutations are reported, leading t...
ORGANISM(S): Mus musculus (Mouse) 
2017-01-16 | PXD004948 | Pride
Human Rare disease High resolution Lc msms 
UnknownStructural basis for proton coupled cystine transport by cystinosin.
Not available
S-EPMC9385667 | biostudies-literature
UnknownStructure and mechanism of human cystine exporter cystinosin.
Not available
S-EPMC9530027 | biostudies-literature
UnknownA Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin.
Not available
S-EPMC5821828 | biostudies-literature
UnknownCystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.
Not available
S-EPMC125690 | biostudies-literature
UnknownMechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.
Not available
S-EPMC3277178 | biostudies-literature
MetabolomicsCysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis
Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but does not correct the established renal proxim...
2021-06-24 | MTBLS2538 | MetaboLights
UnknownEndo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.
Not available
S-EPMC4374958 | biostudies-literature
UnknownInteraction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
Not available
S-EPMC7269416 | biostudies-literature
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