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.
Marlene Attard +7 more
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A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population [PDF]
Journal of Medical Genetics, 2001 Editor—Nephropathic cystinosis (MIM 219800) is a rare autosomal recessively inherited lysosomal storage disorder with a newborn incidence of about 1 in 100 000-200 000 in the general population (OMIM). Cystine accumulates in lysosomes because of dysfunctional cystinosin mediated transport of cystine out of lysosomes. The accumulation of cystine results
C. Anthony Rupar +3 more
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Mutational and Geographical Distribution of the Ctns Gene in Turkish Patients with Cystinosis [PDF]
Journal of Surgical Case Reports and ImagesCystinosis is a rare autosomal recessive storage disease that occurs as a result of deficiency of the cystinosine carrier protein caused by mutations in the CTNS gene, which encodes cystinosine, a cysteine carrier in lysosomal membranes. Our study aimed to determine cystinosis gene mutations and their geographical distribution in Turkish pediatric ...
Osman Demirhan
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The 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 Deletion [PDF]
Genome Research, 2000 Nephropathic cystinosis is an autosomal recessive disorder caused by the defective transport of cystine out of lysosomes. Recently, the causative gene (CTNS) was identified and presumed to encode an integral membrane protein called cystinosin. Many of the disease-associated mutations inCTNSare deletions, including one >55 kb in size that represents ...
Jeffrey W. Touchman +9 more
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Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the <b><i>CTNS</i></b> Gene, and Potential for Repair [PDF]
Nephron, 2018 Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage disease. More than 140 CTNS mutations have been reported worldwide. Recent studies have discovered that cystinosin exerts other key cellular functions beyond cystine transport such as regulation
Dries David +7 more
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Genetic Landscape of Nephropathic Cystinosis in Russian Children
Frontiers in Genetics, 2022 Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene.
K. V. Savostyanov +12 more
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Scientific Reports, 2023 Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns −/− zebrafish ...
Tjessa Bondue +15 more
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Cells, 2021 Mice lacking the functional cystinosin gene (Ctns−/−), a model of infantile nephropathic cystinosis (INC), exhibit the cachexia phenotype with adipose tissue browning and muscle wasting.
Alex Gonzalez +5 more
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Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside
Cells, 2021 Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The gene involved is the CTNS gene that encodes cystinosin, a seven-transmembrane domain lysosomal protein, which is a proton-driven cystine
Stephanie Cherqui
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Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro. [PDF]
PLoS ONE, 2012 Cystinosis is a rare disease caused by homozygous mutations of the CTNS gene, encoding a cystine efflux channel in the lysosomal membrane. In Ctns knockout mice, the pathologic intralysosomal accumulation of cystine that drives progressive organ damage ...
Diana M Iglesias +13 more
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