Cellular and Molecular Mechanisms of Nephropathic Cystinosis
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...
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Levtchenko, Elena N. edt Cellular and Molecular Mechanisms of Nephropathic Cystinosis Basel MDPI - Multidisciplinary Digital Publishing Institute 2022 1 electronic resource (230 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier 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. English Medicine bicssc Pharmacology bicssc 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 3-0365-4568-9 3-0365-4567-0 Levtchenko, Elena N. oth |
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English |
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Levtchenko, Elena N. |
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Levtchenko, Elena N. |
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e n l en enl |
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title |
Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
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Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
title_full |
Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
title_fullStr |
Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
title_full_unstemmed |
Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
title_auth |
Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
title_new |
Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
title_sort |
cellular and molecular mechanisms of nephropathic cystinosis |
publisher |
MDPI - Multidisciplinary Digital Publishing Institute |
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2022 |
physical |
1 electronic resource (230 p.) |
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3-0365-4568-9 3-0365-4567-0 |
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Not Illustrated |
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AT levtchenkoelenan cellularandmolecularmechanismsofnephropathiccystinosis |
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(CKB)5600000000483071 (oapen)https://directory.doabooks.org/handle/20.500.12854/91136 (EXLCZ)995600000000483071 |
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Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
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