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...

Повний опис

Збережено в:

Бібліографічні деталі
Формат:	Online
Мова:	Англійська
Опубліковано:	MDPI - Multidisciplinary Digital Publishing Institute 2022
Предмети:	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
Онлайн доступ:	ONIX_20220812_9783036545684_15
Теги:	Додати тег Немає тегів, Будьте першим, хто поставить тег для цього запису!

Будьте першим, хто залишить коментар!

Cellular and Molecular Mechanisms of Nephropathic Cystinosis

Схожі ресурси