A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East [PDF]
Frontiers in Pediatrics, 2019 Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Farkhondeh Behjati +2 more
exaly +8 more sources
Intermediate type cystinosis with a novel CTNS variant in a child: a case report
Journal of Rare DiseasesCystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin
exaly +3 more sources
Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia [PDF]
BMC Genomic DataBackground Cystinosis is a lysosomal storage disease caused by the accumulation of intralysosomal cystine in different tissues and organs including: brain, cornea, kidneys, liver and, pancreas.
Chayma Sahli +10 more
doaj +3 more sources
Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis [PDF]
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
doaj +5 more sources
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis [PDF]
Nefrología (English Edition), 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 ...
Saied Jaradat +5 more
doaj +7 more sources
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.
MASON S +10 more
core +6 more sources
CTNS molecular genetics profile in a Persian nephropathic cystinosis population
Nefrología, 2017 Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.
Farideh Ghazi +7 more
doaj +6 more sources
An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins [PDF]
Journal of Cachexia, Sarcopenia and MuscleBackground Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys.
Louise Medaer +13 more
doaj +2 more sources
Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells [PDF]
EMBO ReportsCystinosis is a systemic lysosomal storage disease resulting from mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, leading to cystine accumulation in all organs.
Veenita Khare +12 more
doaj +2 more sources
First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
The Scientific World Journal, 2015 Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders.
Yong-jia Yang +10 more
doaj +2 more sources