Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis
about
Identification and characterisation of the murine homologue of the gene responsible for cystinosis, CtnsLAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasisThe promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical regionCTNS mutations in an American-based population of cystinosis patientsThe genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletionSialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharidesCystinosis: the evolution of a treatable diseaseCystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporterCTNS mutations in patients with cystinosisThe Glutathione Derivative, GSH Monoethyl Ester, May Effectively Whiten Skin but GSH Does NotCysteamine enhances the procoagulant activity of Factor VIII-East Hartford, a dysfunctional protein due to a light chain thrombin cleavage site mutation (arginine-1689 to cysteine)Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl esterIntralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosisCystine accumulation attenuates insulin release from the pancreatic β-cell due to elevated oxidative stress and decreased ATP levels.Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosisAnalysis of CTNS gene transcripts in nephropathic cystinosisIntracellular cystine loading inhibits transport in the rabbit proximal convoluted tubuleMaternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytesLysosomal cystine counter-transport in heterozygotes for cystinosis.A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.Excellent long-term outcome of renal transplantation in cystinosis patients.Pharmacological treatment of nephropathic cystinosis with cysteamine.A cysteine-specific lysosomal transport system provides a major route for the delivery of thiol to human fibroblast lysosomes: possible role in supporting lysosomal proteolysis.Genetic basis of cystinosis in Turkish patients: a single-center experience.Pantethine and cystamine deplete cystine from cystinotic fibroblasts via efflux of cysteamine-cysteine mixed disulfide.The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.The intersection of nonalcoholic fatty liver disease and obesity.Lysosomal cystine accumulation promotes mitochondrial depolarization and induction of redox-sensitive genes in human kidney proximal tubular cells.Exacerbating and reversing lysosomal storage diseases: from yeast to humans.Renal cells in culture as a model for cystinosis.Cystine storage in cultured myotubes from patients with nephropathic cystinosis.
P2860
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P2860
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis
description
1982 nî lūn-bûn
@nan
1982 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1982 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1982年の論文
@ja
1982年学术文章
@wuu
1982年学术文章
@zh-cn
1982年学术文章
@zh-hans
1982年学术文章
@zh-my
1982年学术文章
@zh-sg
1982年學術文章
@yue
name
Cystine transport is defective ...... from patients with cystinosis
@ast
Cystine transport is defective ...... from patients with cystinosis
@en
Cystine transport is defective ...... from patients with cystinosis
@en-gb
Cystine transport is defective ...... from patients with cystinosis
@nl
type
label
Cystine transport is defective ...... from patients with cystinosis
@ast
Cystine transport is defective ...... from patients with cystinosis
@en
Cystine transport is defective ...... from patients with cystinosis
@en-gb
Cystine transport is defective ...... from patients with cystinosis
@nl
prefLabel
Cystine transport is defective ...... from patients with cystinosis
@ast
Cystine transport is defective ...... from patients with cystinosis
@en
Cystine transport is defective ...... from patients with cystinosis
@en-gb
Cystine transport is defective ...... from patients with cystinosis
@nl
P2093
P921
P3181
P356
P1433
P1476
Cystine transport is defective ...... from patients with cystinosis
@en
P2093
P304
P3181
P356
10.1126/SCIENCE.7112129
P407
P577
1982-09-24T00:00:00Z