Impact of Early Versus Late Diagnosis on Disease Progression in Cystinosis. [PDF]
Kidney Int RepBenfield MR.
europepmc +1 more source
Mutational spectrum of the CTNS gene in Italy [PDF]
European Journal of Human Genetics, 2003 Classic nephropathic or infantile cystinosis (NC) is an autosomal recessive disorder; the gene coding for the integral membrane protein cystinosin, which is responsible for membrane transport of cystine (CTNS), was cloned.
Guglielmina Pepe +2 more
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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 Region [PDF]
American Journal of Human Genetics, 2001 Although >55 CTNS mutations occur in patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported, because the promoter has not been defined. Using CAT reporter constructs of sequences 5′ to the CTNS coding sequence,
William A Gahl +2 more
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Transcriptional and Posttranscriptional Regulation of the CTNS Gene [PDF]
Pediatric Research, 2011 Cell cysteine (Cys) levels and/or the [Cys/CySS] redox potential have been shown to regulate mRNA levels of the CTNS gene, which encodes for a lysosomal cystine (CySS) carrier that is defective in cystinosis. To investigate the mechanisms involved CTNS mRNA regulation, different portions of the CTNS promotor were cloned into a luciferase vector and ...
Francesco Emma +2 more
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CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population () [PDF]
Open Journal of Genetics, 2018 Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene.
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Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis† ‡ [PDF]
Human Mutation, 2002 The autosomal recessive lysosomal storage disorder, nephropathic cystinosis is characterized by impaired transport of free cystine out of lysosomes. The gene responsible for cystinosis, CTNS, consists of 12 exons and encodes a 55 kDa putative lysosomal membrane protein, called cystinosin.
Andrea Superti-Furga +2 more
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Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin [PDF]
Human Molecular Genetics, 1999 Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across the lysosomal membrane and characterized by early onset of renal proximal tubular dysfunction. Late-onset cystinosis, a rarer form of the disorder, is characterized by onset of symptoms between 12 and 15 years of age.
Corinne Antignac +2 more
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Modulation of CTNS gene expression by intracellular thiols
Free Radical Biology and Medicine, 2010The cysteine/cystine (Cys/CySS) couple represents one of the major cell thiol/disulfide systems and is involved in the regulation of several metabolic pathways and the cell redox state. Nephropathic cystinosis (NC) is an autosomal recessive disease characterized by renal cellular dysfunction due to mutations in the CTNS gene, which encodes cystinosin ...
Francesco Emma +2 more
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Functional analysis of the
Abstract Cystinosis is a severe, monogenic systemic disease caused by variants in CTNS gene. Currently, there is growing evidence that exonic variants in many diseases can affect pre‐mRNA splicing. The impact of CTNS gene exonic variants on splicing regulation may be underestimated due to the lack of routine studies at the RNA level ...
Changying Li +11 more
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Dynamical analysis of mCAT2 gene models with CTN-RNA nuclear retention
Physical Biology, 2015As an experimentally well-studied nuclear-retained RNA, CTN-RNA plays a significant role in many aspects of mouse cationic amino acid transporter 2 (mCAT2) gene expression, but relevant dynamical mechanisms have not been completely clarified. Here we first show that CTN-RNA nuclear retention can not only reduce pre-mCAT2 RNA noise but also mediate its ...
Qianliang, Wang, Tianshou, Zhou
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