about
The 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 regionCystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporterMitochondrial autophagy promotes cellular injury in nephropathic cystinosisCysteamine, the molecule used to treat cystinosis, potentiates the antimalarial efficacy of artemisinin.Cystinosis: practical tools for diagnosis and treatmentImpairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosisGenetic basis of cystinosis in Turkish patients: a single-center experience.Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.Cysteamine, the natural metabolite of pantetheinase, shows specific activity against Plasmodium.The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.Exacerbating and reversing lysosomal storage diseases: from yeast to humans.A case of corneal cystinosis in a patient with rickets and chronic renal failure.Mutational spectrum of the CTNS gene in Italy.Mood and illness experiences of adults with cystinosis.CTNS cotransports CySS-; H+ from lysosomal lumen to cytosolAtypical onset of nephropathic infantile cystinosis in a Russian patient with rare mutation
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999 թուականին հրատարակուած գիտական յօդուած
@hyw
1999 թվականին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
CTNS mutations in patients with cystinosis
@ast
CTNS mutations in patients with cystinosis
@en
CTNS mutations in patients with cystinosis
@nl
type
label
CTNS mutations in patients with cystinosis
@ast
CTNS mutations in patients with cystinosis
@en
CTNS mutations in patients with cystinosis
@nl
prefLabel
CTNS mutations in patients with cystinosis
@ast
CTNS mutations in patients with cystinosis
@en
CTNS mutations in patients with cystinosis
@nl
P2093
P2860
P1433
P1476
CTNS mutations in patients with cystinosis
@en
P2093
V Shotelersuk
Y Anikster
P2860
P356
10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H
P407
P577
1999-01-01T00:00:00Z