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Cellular and Molecular Mechanisms of Nephropathic Cystinosis
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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.
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Keywords
- 3-dimensional models
- Apoptosis
- arterial spin labelling
- Autophagy
- azoospermia
- biomarkers
- bone
- bone-muscle wasting
- CD34+ hematopoietic stem and progenitor cells
- cell and animal models
- cell model
- Central nervous system
- chitotriosidase
- clinical course
- Clinical Trial
- cortical atrophy
- CTNS-pathogenic variants
- cysteamine
- cystine
- cystine blood level
- cystinosis
- disulfiram
- Endocytosis
- endolysosome
- epithelial cell differentiation
- Fertility
- fibroblast growth factor 23
- Fractures
- galectin-3
- Gene Therapy
- genotype
- histopathology
- History
- hollow fiber membrane
- Homeostasis
- Hypogonadism
- infantile nephropathic cystinosis
- Inflammasome
- Interleukins
- investigational new drug application
- Kidney
- kidney progenitors
- kidney proximal tubule
- Leptin
- lysosomal storage disease
- lysosomal storage diseases
- lysosomal storage disorder
- Macrophages
- medicine
- Mice
- mitochondrial distress
- mouse model
- nephropathic cystinosis
- newborn screening
- newborn screening for cystinosis
- novel therapies
- osteoclast
- osteoclasts
- Other branches of medicine
- Pharmacology
- pre-clinical studies
- programmed cell death
- proximal tubular cells
- sclerostin
- therapeutic monitoring
- treatment strategies for cystinosis
- Zebrafish
Links
DOI: 10.3390/books978-3-0365-4567-7Editions