Results 71 to 80 of about 58,222 (243)
A Journey towards Understanding the Molecular Pathology and Developing Therapies for Lysosomal Storage Disorders [PDF]
, 2021 Ritva Tikkanen
openalex +1 more source
Nanoscale Mapping of the Subcellular Glycosylation Landscape
Advanced Science, EarlyView.Using multiplexed super‐resolution imaging with fluorophore‐labeled lectins, this study reports intracellular glycosylation at the nanoscale across organelles and synaptic specializations. Extending glycan analysis beyond the cell surface, Glyco‐STORM reveals distinct glycosylation nanodomains in the ER, Golgi, lysosomes, and synaptic sites.
Helene Gregoria Schroeter +4 more
wiley +1 more source
Advanced Science, EarlyView.PFOA exposure induces pregnancy loss by promoting glutaminolysis, which further causes ammonia accumulation in macrophages. Cellular ammonia retention results in damage to mitochondria and lysosomes, which leads to cell death eventually. Impaired lysosomes also decrease the secretion of the Cathepsin B (CTSB), and attenuate macrophage infiltration and ...
Yongbo Zhao +6 more
wiley +1 more source
NDST3‐Induced Epigenetic Reprogramming Reverses Neurodegeneration in Parkinson's Disease
Advanced Science, EarlyView.NDST3‐mediated epigenetic reprogramming revitalizes neuronal circuits in the substantia nigra and striatum to halt dopaminergic neuron degeneration and restore motor function in Parkinson's disease models. This strategy promotes neuronal maintenance and functional recovery, highlighting NDST3's therapeutic potential in neurodegenerative disorders ...
Yujung Chang +18 more
wiley +1 more source
Stem Cell ResearchFree sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5.
Marya S. Sabir +10 more
doaj +1 more source
Advanced Science, EarlyView.This study identifies Rubicon as a key platelet protein that bidirectionally regulates GPVI and integrin αIIbβ3 signaling. Platelet Rubicon protects against cerebral ischemia‐reperfusion injury by limiting infarction without increasing hemorrhage.
Xiaoyan Chen +11 more
wiley +1 more source
Advanced Science, EarlyView.This study identifies platelet‐derived extracellular vesicles as key immunometabolic regulators in COVID‐19. The delivery of tRF‐His‐GTG‐1 to neutrophils activates TLR8mTOR signaling, disrupts lipophagy, and amplifies NET‐mediated inflammation. Importantly, targeting this axis restores neutrophil homeostasis, offering a potential therapeutic strategy ...
Tsai‐Ling Liao +5 more
wiley +1 more source
Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency
Journal of Veterinary Internal MedicineCholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability ...
Pernilla Syrjä +7 more
doaj +1 more source
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II
EMBO Molecular Medicine, 2013 Mucolipidosis type II (MLII) is a severe multi‐systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules.
Katrin Kollmann +14 more
doaj +1 more source
Gene therapy in Anderson-Fabry disease. State of the art and future perspectives
Cardiogenetics, 2020 Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in ...
Giorgio Spiniello +6 more
doaj +1 more source