Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Clinical Trials --- Drug Evaluation --- Drug Therapy --- Drugs --- Drugs, Investigational --- Investigational New Drug Application --- Pharmacology --- Médicaments --- Pharmacologie --- periodicals. --- Testing --- Periodicals. --- Essais cliniques --- Périodiques --- Clinical Trials as Topic --- Pharmaceutical Preparations --- Drug Evaluation. --- Clinical Trials as Topic. --- Drug Therapy. --- Drugs, Investigational. --- Investigational New Drug Application. --- Pharmaceutical Preparations. --- Pharmaceutic Preparations --- Pharmaceutical Products --- Preparations, Pharmaceutical --- Preparations, Pharmaceutic --- Products, Pharmaceutical --- Drug Dosage Calculations --- Investigational New Drug Applications --- Investigational Drugs --- Investigational New Drugs --- Drugs, Investigational New --- New Drugs, Investigational --- Drug Approval --- Therapy, Drug --- Chemotherapy --- Pharmacotherapy --- Chemotherapies --- Drug Therapies --- Pharmacotherapies --- Therapies, Drug --- Disease --- Pharmacologic Actions --- Clinical Trial as Topic --- Clinical Protocols --- Clinical Trials Data Monitoring Committees --- Therapies, Investigational --- Drug Evaluation Studies --- Evaluation Studies, Drug --- Drug Evaluation Study --- Drug Evaluations --- Evaluation Study, Drug --- Evaluation, Drug --- Evaluations, Drug --- Studies, Drug Evaluation --- Study, Drug Evaluation --- drug therapy --- therapeutic use --- Periodicals --- Health Sciences --- Clinical Medicine --- Legal Medicine --- Medical Education, Training & Research --- Pharmacy and Pharmacology --- Therapeutics --- Médicaments --- Périodiques --- EBSCOASP-E EPUB-ALPHA-C EPUB-PER-FT MDPHARMA --- Pharmaceuticals --- Drug --- Pharmaceutical --- Pharmaceutical Preparation --- Pharmaceutical Product --- Preparation, Pharmaceutical --- Product, Pharmaceutical --- Investigational Drug --- Investigational New Drug --- Drug, Investigational --- Drug, Investigational New --- New Drug, Investigational --- Drugs, Investigational.. --- Medicaments --- Medications --- Medicine (Drugs) --- Medicines (Drugs) --- Prescription drugs --- Bioactive compounds --- Medical supplies --- Pharmacopoeias --- Materia medica --- Pharmacy --- Pharmacologie clinique --- Drugs. --- Pharmacology. --- Testing. --- Farmacologia --- Farmacologia. --- Medicaments.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

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, pancreas, muscles, and brain. While lysosomal cystine storage is a key feature of the disease and the main target of current therapy, recent groundbreaking research has revealed that cystinosin has diverse functions in cells, being involved in vesicle trafficking, energy homeostasis, and cell death mechanisms. These discoveries deepen our insights into the mechanisms of cystinosis and of lysosomal biology in general. In this Special Issue dedicated to the pioneer of cystinosis research Dr. Jerry Schneider, we highlight the state-of-the-art understanding of cellular and molecular mechanisms of various disease features, opening new horizons for innovative treatment strategies for cystinosis and potentially other lysosomal storage diseases.

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