Identification of HE1 as the second gene of Niemann-Pick C disease
about
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progressionNiemann-Pick disease type CLoss of Niemann Pick type C proteins 1 and 2 greatly enhances HIV infectivity and is associated with accumulation of HIV Gag and cholesterol in late endosomes/lysosomesNovel function of Niemann-Pick C1-like 1 as a negative regulator of Niemann-Pick C2 proteinIdentification of sites of mannose 6-phosphorylation on lysosomal proteinsNPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterolsMutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylationThe proteome of lysosomesNPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterolsNPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomesNogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol traffickingRegulation of sterol transport between membranes and NPC2Ebola virus entry requires the cholesterol transporter Niemann-Pick C1Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 diseaseAutophagy in lysosomal storage disordersCholesterol trafficking is required for mTOR activation in endothelial cellsCholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cellsEbola virus entry requires the host-programmed recognition of an intracellular receptorEndogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C diseaseLipoprotein receptors and cholesterol in APP trafficking and proteolytic processing, implications for Alzheimer's diseaseThe pathogenesis of Niemann-Pick type C disease: a role for autophagy?Neurosteroid regulation of central nervous system developmentThe non-coding RNA gadd7 is a regulator of lipid-induced oxidative and endoplasmic reticulum stressThe LDL receptorRab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cellsCell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C diseaseDiagnostic workup and management of patients with suspected Niemann-Pick type C diseaseDysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustatMolecular pathways for intracellular cholesterol accumulation: common pathogenic mechanisms in Niemann-Pick disease Type C and cystic fibrosisNiemann-Pick disease type C symptomatology: an expert-based clinical descriptionGenetic and laboratory diagnostic approach in Niemann Pick disease type CAutophagy in the physiology and pathology of the central nervous systemGenetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type CStructural Basis of Sterol Binding by NPC2, a Lysosomal Protein Deficient in Niemann-Pick Type C2 DiseaseStructure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of CholesterolSaccharomyces cerevisiae Npc2p is a functionally conserved homologue of the human Niemann-Pick disease type C 2 protein, hNPC2.ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human DiseaseLiver X receptors at the intersection of lipid metabolism and atherogenesis
P2860
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P2860
Identification of HE1 as the second gene of Niemann-Pick C disease
description
2000 nî lūn-bûn
@nan
2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Identification of HE1 as the second gene of Niemann-Pick C disease
@ast
Identification of HE1 as the second gene of Niemann-Pick C disease
@en
Identification of HE1 as the second gene of Niemann-Pick C disease
@en-gb
Identification of HE1 as the second gene of Niemann-Pick C disease
@nl
type
label
Identification of HE1 as the second gene of Niemann-Pick C disease
@ast
Identification of HE1 as the second gene of Niemann-Pick C disease
@en
Identification of HE1 as the second gene of Niemann-Pick C disease
@en-gb
Identification of HE1 as the second gene of Niemann-Pick C disease
@nl
prefLabel
Identification of HE1 as the second gene of Niemann-Pick C disease
@ast
Identification of HE1 as the second gene of Niemann-Pick C disease
@en
Identification of HE1 as the second gene of Niemann-Pick C disease
@en-gb
Identification of HE1 as the second gene of Niemann-Pick C disease
@nl
P2093
P3181
P1433
P1476
Identification of HE1 as the second gene of Niemann-Pick C disease
@en
P2093
H Lackland
M T Vanier
R Wattiaux
S Naureckiene
P304
P3181
P356
10.1126/SCIENCE.290.5500.2298
P407
P577
2000-12-22T00:00:00Z