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Cellular and Molecular Mechanisms of Nephropathic Cystinosis
| Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
| Autore | Levtchenko Elena N |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (230 p.) |
| Soggetto topico |
Medicine and Nursing
Pharmacology |
| Soggetto non controllato |
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 mice mitochondrial distress mouse model nephropathic cystinosis newborn screening newborn screening for cystinosis novel therapies osteoclast osteoclasts pre-clinical studies programmed cell death proximal tubular cells sclerostin therapeutic monitoring treatment strategies for cystinosis zebrafish |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910585941103321 |
Levtchenko Elena N
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
| Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| Autore | Moro Enrico |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 online resource (301 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
A4GALT
alpha-galactosidase A animal models astrogliosis autophagy axon guidance biomarkers bone involvement cathepsin D chloroquine clathrin Dkk1 dried blood spot endocytic pathways endocytosis enzyme replacement therapy exosomes experimental therapies Fabry disease GAA biomarker Gaucher disease Gaucher Disease gene therapy GLA gene globotriaosyl-sphingosine (lysoGb3) globotriaosylceramide (Gb3) globotriaosylsphingosine glycogen hematopoietic stem cell transplantations Hurler syndrome IGF2R/M6P iPSC Krabbe disease lyso-Gb3 lysosomal diseases lysosomal storage disorder lysosomal storage disorders lysosomal targeting lysosomal α-glucosidase lysosome lysosomes MIP-1β mucolipidosis II mucopolysaccharidosis IIIB mucopolysaccharidosis type I muscle NAGLU neurodegenerative disease neuronal circuit neuronopathy newborn screening Osteoimmunology Osteopontin Parkinson disease pharmacological chaperone therapy pharmacological chaperones Pompe disease precision medicine psychosine quantitative proteomics RANK/RANKL rhGAA satellite cells second tier test sortilin substrate reduction therapy tandem mass spectrometry TGF-beta Twitcher mouse variant interpretation viral vectors visual cortex visual system Wnt/β-catenin Wnt3a α-galactosidase A |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Lysosomal Storage Disorders |
| Record Nr. | UNINA-9910557545503321 |
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Moro Enrico
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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