Targeting interleukin-1 for reversing fat browning and muscle wasting in infantile nephropathic cystinosis [PDF]
Journal of Cachexia, Sarcopenia and Muscle, 2021 Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting.
Hal M Hoffman, Robert H Mak, Sheng Hao
exaly +4 more sources
Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder [PDF]
Journal of Cachexia, Sarcopenia and MuscleBackground The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations.
Eduardo A Oliveira +2 more
exaly +4 more sources
Vitamin D repletion ameliorates adipose tissue browning and muscle wasting in infantile nephropathic cystinosis-associated cachexia [PDF]
Journal of Cachexia, Sarcopenia and Muscle, 2020 Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Ctns−/− mice are 25(OH)D3 and 1,25(OH)2D3 insufficient.
Hal M Hoffman, Shiping Li, Ping Zhou
exaly +4 more sources
Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts [PDF]
Cells, 2022 Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life ...
Justine Bacchetta +2 more
exaly +4 more sources
A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia [PDF]
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.
Eduardo A Oliveira +2 more
exaly +4 more sources
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation
Clinical Case Reports (discontinued), 2018 Key Clinical Message We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease.
Ekaterina Surkova
exaly +3 more sources
Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study [PDF]
Frontiers in Medicine, 2022 BackgroundInfantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder resulting in progressive chronic kidney disease (CKD) and a variety of extrarenal manifestations.
Nina O'Connell +15 more
doaj +2 more sources
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation [PDF]
Eurasian Journal of Medicine, 2019 Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene.
Hakan Doneray +4 more
doaj +2 more sources
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report [PDF]
BMC Nephrology, 2019 Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh +7 more
doaj +2 more sources
Journal of Inherited Metabolic Disease, 2022 Abstract Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs. The aim of this cross‐sectional study was to investigate neuromuscular complications in a cohort of 55 patients (aged 2.8‐41.3 years, median 18.5 years) with INC ...
Wolfgang Müller-Felber +2 more
exaly +2 more sources