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CTNS gene
Known as:
CTNS-LSB
, cystinosin, lysosomal cystine transporter
, CTNS
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National Institutes of Health
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Related topics
Related topics
3 relations
Fanconi Syndrome
Nephropathic cystinosis
cystine 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.
Tatiana Lobry
,
Roy Miller
,
+14 authors
S. Cherqui
Kidney International
2019
Corpus ID: 87237231
2017
2017
Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A
Jinzhong Zhang
,
J. Johnson
,
+10 authors
S. Catz
Journal of Biological Chemistry
2017
Corpus ID: 4443427
The lysosomal storage disease cystinosis, caused by cystinosin deficiency, is characterized by cell malfunction, tissue failure…
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2016
2016
Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility.
E. Ivanova
,
F. Arcolino
,
+5 authors
E. Levtchenko
Kidney International
2016
Corpus ID: 30401954
Highly Cited
2016
Highly Cited
2016
Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.
Zuzanna Andrzejewska
,
N. Névo
,
+7 authors
C. Antignac
Journal of the American Society of Nephrology
2016
Corpus ID: 10416588
Cystinosis is a rare autosomal recessive storage disorder characterized by defective lysosomal efflux of cystine due to mutations…
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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
V. Saudek
PLoS ONE
2012
Corpus ID: 14191291
Classification of proteins into families based on remote homology often helps prediction of their biological function. Here we…
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2012
2012
Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin
R. Ruivo
,
G. Bellenchi
,
+6 authors
B. Gasnier
Proceedings of the National Academy of Sciences
2012
Corpus ID: 6511021
Secondary active transporters use electrochemical gradients provided by primary ion pumps to translocate metabolites or drugs…
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Highly Cited
2004
Highly Cited
2004
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
V. Kalatzis
,
N. Névo
,
S. Cherqui
,
B. Gasnier
,
C. Antignac
Human Molecular Genetics
2004
Corpus ID: 18537225
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three clinical forms (infantile…
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Highly Cited
2001
Highly Cited
2001
Cystinosin, the protein defective in cystinosis, is a H+‐driven lysosomal cystine transporter
V. Kalatzis
,
S. Cherqui
,
C. Antignac
,
B. Gasnier
EMBO Journal
2001
Corpus ID: 44452653
Cystinosis is an inherited lysosomal storage disease characterized by defective transport of cystine out of lysosomes. However…
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Highly Cited
2001
Highly Cited
2001
The Targeting of Cystinosin to the Lysosomal Membrane Requires a Tyrosine-based Signal and a Novel Sorting Motif*
S. Cherqui
,
V. Kalatzis
,
G. Trugnan
,
C. Antignac
Journal of Biological Chemistry
2001
Corpus ID: 25120489
Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine. Biochemical studies…
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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.
M. Attard
,
G. Jean
,
+5 authors
M. Town
Human Molecular Genetics
1999
Corpus ID: 41734139
Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across…
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