Results 41 to 50 of about 6,860 (229)
Autophagy, 2023 Differentiation and fate decisions are critical for the epithelial cells lining the proximal tubule (PT) of the kidney, but the signals involved remain unknown.
A. Luciani, O. Devuyst
semanticscholar +1 more source
[Cystinosis: From the gene identification to the first gene therapy clinical trial].
Medecine sciences : M/S, 2023 Cystinosis is an autosomal recessive metabolic disease characterized by lysosomal accumulation of cystine in all the cells of the body. Infantile cystinosis begins in infancy by a renal Fanconi syndrome and eventually leads to multi-organ failure ...
S. Cherqui
semanticscholar +1 more source
Pediatric nephrology (Berlin, West), 2023 Nephropathic cystinosis (NC) is a rare lysosomal disease, leading to early kidney failure and extra-renal comorbidities. Its prognosis strongly relies on early diagnosis and treatment by cysteamine.
Maitena Regnier +8 more
semanticscholar +1 more source
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
semanticscholar +1 more source
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine
Journal of Clinical Investigation, 2023 Cystinosis is a lysosomal storage disease that is characterized by the accumulation of dipeptide cystine within the lumen. It is caused by mutations in the cystine exporter, cystinosin.
Varsha Venkatarangan +5 more
semanticscholar +1 more source
Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients
Pharmaceutics, 2023 Cystinosis is a severe inherited metabolic storage disease caused by the lysosomal accumulation of cystine. Lifelong therapy with the drug cysteamine bitartrate is necessary. Cysteamine cleaves intralysosomal cystine, and thereafter, it can exit from the
Sabrina Klank +8 more
semanticscholar +1 more source
Thermo-responsive and mucoadhesive gels for the treatment of cystinosis.
Biomaterials Advances, 2023 Mucoadhesive thermogels were developed by crosslinking poly(n-isopropylacrylamide) based polymers with chitosan and incorporating disulfide bridges, capable of releasing cysteamine upon interaction with mucin, for the treatment of cystinosis.
Mitchell Ross +6 more
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain.
Ana A. Francisco +4 more
doaj +1 more source
The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
International Journal of Molecular Sciences, 2023 Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting ...
Tjessa Bondue +8 more
semanticscholar +1 more source
Ophthalmology and Therapy, 2018 Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
Susmito Biswas +5 more
doaj +1 more source