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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| Լեզու: | անգլերեն |
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MDPI - Multidisciplinary Digital Publishing Institute
2022
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| Առցանց հասանելիություն: | ONIX_20220812_9783036545684_15 |
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Չկան պիտակներ, Եղեք առաջինը, ով նշում է այս գրառումը!
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| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-91136 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-911362024-03-31T13:08:09Z Cellular and Molecular Mechanisms of Nephropathic Cystinosis Levtchenko, Elena N. 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 thema EDItEUR::M Medicine and Nursing thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology 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. 2022-08-12T12:44:06Z 2022-08-12T12:44:06Z 2022 book ONIX_20220812_9783036545684_15 9783036545684 9783036545677 https://directory.doabooks.org/handle/20.500.12854/91136 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/5769 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-4567-7 10.3390/books978-3-0365-4567-7 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036545684 9783036545677 230 Basel open access |
| spellingShingle | 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 thema EDItEUR::M Medicine and Nursing thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
| title | 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_short | Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
| title_sort | cellular and molecular mechanisms of nephropathic cystinosis |
| topic | 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 thema EDItEUR::M Medicine and Nursing thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology |
| topic_facet | 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 thema EDItEUR::M Medicine and Nursing thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology |
| url | ONIX_20220812_9783036545684_15 |