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Cystinosin, lysosomal cystine transporter

CTNS
This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] (from NCBI)
Top mentioned proteins: AGE, HAD, OUT, CAN, ACID
Papers on CTNS
Cystine accumulation attenuates insulin release from the pancreatic β-cell due to elevated oxidative stress and decreased ATP levels.
New
Newsholme et al., Dublin, Ireland. In J Physiol, Jan 2016
Ctns gene knockdown in a pancreatic β-cell line caused increased cystine levels.
Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation.
New
Cherqui et al., San Diego, United States. In Invest Ophthalmol Vis Sci, Dec 2015
PURPOSE: Cystinosis is caused by a deficiency in the lysosomal cystine transporter, cystinosin (CTNS gene), resulting in cystine crystal accumulation in tissues.
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
New
Al-Younis et al., Irbid, Jordan. In Nefrologia, Nov 2015
OBJECTIVE: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein.
Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.
New
Antignac et al., Paris, France. In J Am Soc Nephrol, Nov 2015
UNASSIGNED: Cystinosis is a rare autosomal recessive storage disorder characterized by defective lysosomal efflux of cystine due to mutations in the CTNS gene encoding the lysosomal cystine transporter, cystinosin.
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.
New
Laradi et al., Sousse, Tunisia. In Meta Gene, Sep 2015
Mutations in the CTNS gene cause a deficiency of the transport protein, cystinosin.
First report of CTNS mutations in a Chinese family with infantile cystinosis.
Zhu et al., Changsha, China. In Scientificworldjournal, 2014
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin.
Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.
Levtchenko et al., Leuven, Belgium. In Plos One, 2014
Nephropathic cystinosis is a lysosomal storage disorder caused by mutations in the CTNS gene encoding cystine transporter cystinosin that results in accumulation of amino acid cystine in the lysosomes throughout the body and especially affects kidneys.
Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient.
Emma et al., Roma, Italy. In J Transl Med, 2014
BACKGROUND: Cystinosis is a rare autosomal recessive disease caused by mutations of the CTNS gene, which encodes for a lysosomal cystine/H(+) symporter.
Nephropathic cystinosis: an international consensus document.
Review
Levtchenko et al., Roma, Italy. In Nephrol Dial Transplant, 2014
Cystinosis is caused by mutations in the CTNS gene (17p13.2),
Cystinosis: clinical presentation, pathogenesis and treatment.
Review
Levtchenko et al., In Pediatr Endocrinol Rev, 2014
Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in the CTNS gene ncoding the lysosomal cystine transporter cystinosin.
Is genetic rescue of cystinosis an achievable treatment goal?
Review
Cherqui, San Diego, United States. In Nephrol Dial Transplant, 2014
The defective gene is CTNS, which encodes the lysosomal cystine transporter, cystinosin.
LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis.
Impact
Wang et al., Beijing, China. In Science, 2012
Mutations in the cystine transporter gene CTNS cause cystinosis, but other lysosomal amino acid transporters are poorly characterized at the molecular level.
Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctns⁻/⁻ mouse model.
GeneRIF
Levtchenko et al., Leuven, Belgium. In Fertil Steril, 2012
The Ctns(-/-) mouse model generated on C57BL/6 background is not suitable for clarifying the pathogenesis of male infertility in cystinosis.
Two novel CTNS mutations in cystinosis patients in Thailand.
GeneRIF
Shotelersuk et al., Bangkok, Thailand. In Gene, 2012
Mutation analysis of CTNS in six cystinosis patients from four families in Thailand. Using PCR sequencing of the entire coding regions, study identified all eight mutant alleles, including two mutations, p.G309D and p.Q284X, that have not been previously reported.
Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.
GeneRIF
Gasnier et al., Paris, France. In Proc Natl Acad Sci U S A, 2012
cystinosin exports the proteolysis-derived dimeric amino acid cystine from lysosomes and is impaired in cystinosis.
Genetic basis of cystinosis in Turkish patients: a single-center experience.
GeneRIF
Gahl et al., Ankara, Turkey. In Pediatr Nephrol, 2012
Report CTNS mutations in Turkish cystinosis patients.
Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse.
GeneRIF
Jester et al., India. In Mol Vis, 2010
Deletion of cystinosis gene (Ctns) causes corneal cystine crystals formation, neovascularization and scarring in the cornea of ctns transgenic mice mimicking cystinosis in humans.
The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.
Review
Levtchenko et al., Leuven, Belgium. In Am J Physiol Renal Physiol, 2010
The disease is caused by mutations in the CTNS gene, encoding the lysosomal cystine transporter cystinosin, and is characterized by accumulation of cystine in the lysosomes throughout the body.
Cystinosis
Review
Gahl et al., Seattle, United States. In Unknown Journal, 2001
Identification of two pathogenic variants in CTNS, the only gene in which mutation is currently known to be cause cystinosis, is confirmatory.
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Impact
Antignac et al., London, United Kingdom. In Nat Genet, 1998
CTNS encodes an integral membrane protein, cystinosin, with features of a lysosomal membrane protein.
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