Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations.
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Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis.2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C diseaseEndogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C diseaseThe pathogenesis of Niemann-Pick type C disease: a role for autophagy?Neurosteroid regulation of central nervous system developmentCell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C diseaseOlfactory deficits in Niemann-Pick type C1 (NPC1) diseaseMutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution.Targeted mutation of the MLN64 START domain causes only modest alterations in cellular sterol metabolismProtein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 diseaseFostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseGenetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transportEfficacy and ototoxicity of different cyclodextrins in Niemann-Pick C diseaseAtypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkersClinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease.Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.Identification of a pharmaceutical compound that partially corrects the Niemann-Pick C phenotype in cultured cells.Alteration of the glutamate and GABA transporters in the hippocampus of the Niemann-Pick disease, type C mouse using proteomic analysis.Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type CThe factors affecting lipid profile in adult patients with MucopolysaccharidosisNiemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo.Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acidNiemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrinAccumulation of cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1-deficient cellsSize and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables.Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect.Diseases of white matter and schizophrenia-like psychosis.Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional studyBrain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout miceRequirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish.Biodistribution and pharmacodynamics of recombinant human alpha-L-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrationsNiemann-Pick Type C disease and Alzheimer's disease: the APP-endosome connection fattens up.Neurobiology and cellular pathogenesis of glycolipid storage diseases.Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.Secondary lipid accumulation in lysosomal disease.Ganglioside biochemistryEnhanced expression of matrix metalloproteinase-12 contributes to Npc1 deficiency-induced axonal degeneration.Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B.Ganglioside accumulation in activated glia in the developing brain: comparison between WT and GalNAcT KO mice.Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.
P2860
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P2860
Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Neurons in Niemann-Pick diseas ...... dritic and axonal alterations.
@ast
Neurons in Niemann-Pick diseas ...... dritic and axonal alterations.
@en
type
label
Neurons in Niemann-Pick diseas ...... dritic and axonal alterations.
@ast
Neurons in Niemann-Pick diseas ...... dritic and axonal alterations.
@en
prefLabel
Neurons in Niemann-Pick diseas ...... dritic and axonal alterations.
@ast
Neurons in Niemann-Pick diseas ...... dritic and axonal alterations.
@en
P2093
P2860
P356
P1476
Neurons in Niemann-Pick diseas ...... dritic and axonal alterations.
@en
P2093
P2860
P356
10.1093/JNEN/60.1.49
P577
2001-01-01T00:00:00Z