04329nam 2201129z- 450 991058594110332120220812(CKB)5600000000483071(oapen)https://directory.doabooks.org/handle/20.500.12854/91136(oapen)doab91136(EXLCZ)99560000000048307120202208d2022 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierCellular and Molecular Mechanisms of Nephropathic CystinosisBaselMDPI - Multidisciplinary Digital Publishing Institute20221 online resource (230 p.)3-0365-4568-9 3-0365-4567-0 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 and NursingbicsscPharmacologybicssc3-dimensional modelsapoptosisarterial spin labellingautophagyazoospermiabiomarkersbonebone-muscle wastingCD34+ hematopoietic stem and progenitor cellscell and animal modelscell modelcentral nervous systemchitotriosidaseclinical courseclinical trialcortical atrophyCTNS-pathogenic variantscysteaminecystinecystine blood levelcystinosisdisulfiramendocytosisendolysosomeepithelial cell differentiationfertilityfibroblast growth factor 23fracturesgalectin-3gene therapygenotypehistopathologyhistoryhollow fiber membranehomeostasishypogonadisminfantile nephropathic cystinosisinflammasomeinterleukinsinvestigational new drug applicationkidneykidney progenitorskidney proximal tubuleleptinlysosomal storage diseaselysosomal storage diseaseslysosomal storage disordermacrophagesmicemitochondrial distressmouse modelnephropathic cystinosisnewborn screeningnewborn screening for cystinosisnovel therapiesosteoclastosteoclastspre-clinical studiesprogrammed cell deathproximal tubular cellssclerostintherapeutic monitoringtreatment strategies for cystinosiszebrafishMedicine and NursingPharmacologyLevtchenko Elena Nedt1318511Levtchenko Elena NothBOOK9910585941103321Cellular and Molecular Mechanisms of Nephropathic Cystinosis3033346UNINA