LEADER 04288nam 2201117z- 450 001 9910585941103321 005 20231214133617.0 035 $a(CKB)5600000000483071 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/91136 035 $a(EXLCZ)995600000000483071 100 $a20202208d2022 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aCellular and Molecular Mechanisms of Nephropathic Cystinosis 210 $aBasel$cMDPI - Multidisciplinary Digital Publishing Institute$d2022 215 $a1 electronic resource (230 p.) 311 $a3-0365-4568-9 311 $a3-0365-4567-0 330 $aNephropathic 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. 606 $aMedicine$2bicssc 606 $aPharmacology$2bicssc 610 $acystinosis 610 $acysteamine 610 $abone 610 $aosteoclast 610 $agenotype 610 $aCD34+ hematopoietic stem and progenitor cells 610 $agene therapy 610 $apre-clinical studies 610 $ainvestigational new drug application 610 $aclinical trial 610 $adisulfiram 610 $amice 610 $azebrafish 610 $afertility 610 $aazoospermia 610 $ahypogonadism 610 $ahistopathology 610 $amouse model 610 $alysosomal storage disease 610 $acell and animal models 610 $ainfantile nephropathic cystinosis 610 $abone-muscle wasting 610 $afibroblast growth factor 23 610 $aosteoclasts 610 $asclerostin 610 $aleptin 610 $afractures 610 $anephropathic cystinosis 610 $ahollow fiber membrane 610 $a3-dimensional models 610 $aautophagy 610 $amacrophages 610 $ainflammasome 610 $aproximal tubular cells 610 $aendocytosis 610 $aapoptosis 610 $achitotriosidase 610 $ainterleukins 610 $agalectin-3 610 $anovel therapies 610 $aendolysosome 610 $aepithelial cell differentiation 610 $ahomeostasis 610 $alysosomal storage diseases 610 $amitochondrial distress 610 $akidney proximal tubule 610 $aprogrammed cell death 610 $acentral nervous system 610 $acortical atrophy 610 $aarterial spin labelling 610 $acystine blood level 610 $alysosomal storage disorder 610 $ahistory 610 $atreatment strategies for cystinosis 610 $anewborn screening 610 $aclinical course 610 $aCTNS-pathogenic variants 610 $anewborn screening for cystinosis 610 $akidney progenitors 610 $acell model 610 $abiomarkers 610 $acystine 610 $akidney 610 $atherapeutic monitoring 615 7$aMedicine 615 7$aPharmacology 700 $aLevtchenko$b Elena N$4edt$01318511 702 $aLevtchenko$b Elena N$4oth 906 $aBOOK 912 $a9910585941103321 996 $aCellular and Molecular Mechanisms of Nephropathic Cystinosis$93033346 997 $aUNINA