04288nam 2201117z- 450 991058594110332120231214133617.0(CKB)5600000000483071(oapen)https://directory.doabooks.org/handle/20.500.12854/91136(EXLCZ)99560000000048307120202208d2022 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierCellular and Molecular Mechanisms of Nephropathic CystinosisBaselMDPI - Multidisciplinary Digital Publishing Institute20221 electronic 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.MedicinebicsscPharmacologybicssccystinosiscysteamineboneosteoclastgenotypeCD34+ hematopoietic stem and progenitor cellsgene therapypre-clinical studiesinvestigational new drug applicationclinical trialdisulfirammicezebrafishfertilityazoospermiahypogonadismhistopathologymouse modellysosomal storage diseasecell and animal modelsinfantile nephropathic cystinosisbone-muscle wastingfibroblast growth factor 23osteoclastssclerostinleptinfracturesnephropathic cystinosishollow fiber membrane3-dimensional modelsautophagymacrophagesinflammasomeproximal tubular cellsendocytosisapoptosischitotriosidaseinterleukinsgalectin-3novel therapiesendolysosomeepithelial cell differentiationhomeostasislysosomal storage diseasesmitochondrial distresskidney proximal tubuleprogrammed cell deathcentral nervous systemcortical atrophyarterial spin labellingcystine blood levellysosomal storage disorderhistorytreatment strategies for cystinosisnewborn screeningclinical courseCTNS-pathogenic variantsnewborn screening for cystinosiskidney progenitorscell modelbiomarkerscystinekidneytherapeutic monitoringMedicinePharmacologyLevtchenko Elena Nedt1318511Levtchenko Elena NothBOOK9910585941103321Cellular and Molecular Mechanisms of Nephropathic Cystinosis3033346UNINA