Understanding the phenotypic variability in Niemann-Pick ... - Nature
WEBAug 11, 2023 · Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in...
Loss of NPC1 enhances phagocytic uptake and impairs lipid ... - Nature
WEBFeb 24, 2021 · Microglia from 8-weeks old Npc1 −/− mice showed a 1.6-fold higher phagocytic clearance of amyloid aggregates compared to WT cells (Fig. 1f), suggesting that lysosomal degradation in Npc1 − ...
Cell-type-specific aging clocks to quantify aging and ... - Nature
WEBDec 19, 2022 · Young and old mice were aged 4.5 months and 21.5 months, respectively, at the start of the 5-week voluntary wheel running intervention, so they were 6 months and 23 months when tissues...
Understanding and Treating Niemann–Pick Type C Disease: …
WEBNov 26, 2020 · (a) Fluorescence micrographs of retinal neurons from one-week-old wild-type (WT) and NPC1-deficient (NPC) mice in vivo. NPC1 deficiency causes an intracellular accumulation of unesterified cholesterol in neurons of …
Hepatic and neuronal phenotype of NPC1−/− mice - PMC
WEBMar 14, 2019 · Animals of 4–10 weeks of age were analyzed for general health, motor deficits as well as hepatic and neuronal alterations with a special focus on cerebellar pathology. Our results show that NPC1 −/− mice have …
The Cerebellum in Niemann-Pick C1 Disease: Mouse Versus Man
WEBAlthough only a few transcriptomic changes were found in 3 weeks old Npc nih compared to wild-type mice, multiple changes at this stage were observed for microglia transcripts.
Rescue of neurodegeneration in Niemann–Pick C mice by a …
WEBNov 15, 2002 · We have sought to determine the extent to which visceral disease contributes to neurodegeneration by making transgenic mice in which the wild-type NPC1 protein is expressed primarily in the CNS using the prion promoter.
Cholesterol accumulation in tissues of the Niemann-Pick type C mouse …
WEBOct 12, 1999 · By 7 weeks of age, the sterol pool in the NPC mice had increased from 2,165 to 5,669 mg/kg body weight because of the daily sequestration of 67 mg of cholesterol per kg in the various organs. This was 7-fold greater …
Treatment trials in Niemann-Pick type C disease - PMC
WEBOct 1, 2021 · Pre-symptomatic mice (3–5 weeks old), mice with the early symptoms of the disease (6–8 weeks old) and mice with the advanced disease (8–10 weeks old) were treated with i) ibuprofen, ii) Miglustat, and iii) the combined action of …
Critical role for glycosphingolipids in Niemann-Pick disease type C ...
WEBAug 21, 2001 · (a) The majority of untreated NPC mice showed a well-defined clinical phenotype (ataxia and intention tremor) between 50 and 62 days of age; by 63–75 days of age, clinical neurological disease and lethality were observed in …
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