Cellular and Molecular Mechanisms of Nephropathic Cystinosis

• Autres auteurs: Levtchenko, Elena N. (Éditeur intellectuel)
• Format: Électronique Chapitre de livre
• Langue: anglais
• Publié: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
• Sujets: Medicine; Pharmacology; cystinosis; cysteamine; bone; osteoclast; genotype; CD34+ hematopoietic stem and progenitor cells; gene therapy; pre-clinical studies; investigational new drug application; clinical trial; disulfiram; mice; zebrafish; fertility; azoospermia; hypogonadism; histopathology; mouse model; lysosomal storage disease; cell and animal models; infantile nephropathic cystinosis; bone-muscle wasting; fibroblast growth factor 23; osteoclasts; sclerostin; leptin; fractures; nephropathic cystinosis; hollow fiber membrane; 3-dimensional models; autophagy; macrophages; inflammasome; proximal tubular cells; endocytosis; apoptosis; chitotriosidase; interleukins; galectin-3; novel therapies; endolysosome; epithelial cell differentiation; homeostasis; lysosomal storage diseases; mitochondrial distress; kidney proximal tubule; programmed cell death; central nervous system; cortical atrophy; arterial spin labelling; cystine blood level; lysosomal storage disorder; history; treatment strategies for cystinosis; newborn screening; clinical course; CTNS-pathogenic variants; newborn screening for cystinosis; kidney progenitors; cell model; biomarkers; cystine; kidney; therapeutic monitoring
• Accès en ligne: DOAB: download the publication; DOAB: description of the publication

Nephropathic cystinosis (MIM # 219800) is a rare autosomal recessive disorder caused by mutations in the lysosomal cystine transporter cystinosin, encoded by the CTNS gene (17p13.2). This devastating condition initially affects kidneys and subsequently many other organs including eyes, thyroid, panc...