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CTNS gene

Known as: CTNS-LSB, cystinosin, lysosomal cystine transporter, CTNS 
 
National Institutes of Health

Related topics

Related topics

3 relations
Fanconi SyndromeNephropathic cystinosiscystine porter activity

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we… Expand
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2017
2017
Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A
The lysosomal storage disease cystinosis, caused by cystinosin deficiency, is characterized by cell malfunction, tissue failure… Expand
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2012
2012
Cystinosin, MPDU1, SWEETs and KDELR Belong to a Well-Defined Protein Family with Putative Function of Cargo Receptors Involved in Vesicle Trafficking
Classification of proteins into families based on remote homology often helps prediction of their biological function. Here we… Expand
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2012
2012
Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin
Secondary active transporters use electrochemical gradients provided by primary ion pumps to translocate metabolites or drugs… Expand
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Highly Cited
2005
Highly Cited
2005
ERS1 encodes a functional homologue of the human lysosomal cystine transporter
Cystinosis is a lysosomal storage disease caused by an accumulation of insoluble cystine in the lumen of the lysosome. CTNS… Expand
Highly Cited
2004
Highly Cited
2004
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three clinical forms (infantile… Expand
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Highly Cited
2001
Highly Cited
2001
Cystinosin, the protein defective in cystinosis, is a H+‐driven lysosomal cystine transporter
Cystinosis is an inherited lysosomal storage disease characterized by defective transport of cystine out of lysosomes. However… Expand
Highly Cited
2001
Highly Cited
2001
The Targeting of Cystinosin to the Lysosomal Membrane Requires a Tyrosine-based Signal and a Novel Sorting Motif*
Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine. Biochemical studies… Expand
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2000
2000
Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns
BackgroundCystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected… Expand
Highly Cited
1999
Highly Cited
1999
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across… Expand
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