Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice.
about
Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorderNiemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrinTherapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease.Scientific side trips: six excursions from the beaten path.Hepatic entrapment of esterified cholesterol drives continual expansion of whole body sterol pool in lysosomal acid lipase-deficient miceAlterations in gene expression in mutant amyloid precursor protein transgenic mice lacking Niemann-Pick type C1 proteinA murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.Systemic administration of 2-hydroxypropyl-β-cyclodextrin to symptomatic Npc1-deficient mice slows cholesterol sequestration in the major organs and improves liver functionIdentification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infectionCyclodextrin protects podocytes in diabetic kidney disease.Ontogenic changes in lung cholesterol metabolism, lipid content, and histology in mice with Niemann-Pick type C disease.The potential of histone deacetylase inhibitors in Niemann - Pick type C disease.New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia.Complex lipid trafficking in Niemann-Pick disease type C.AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease.Membrane lipids regulate ganglioside GM2 catabolism and GM2 activator protein activityFTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.Role of cathepsin D in U18666A-induced neuronal cell death: potential implication in Niemann-Pick type C disease pathogenesis.Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity.Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice.
P2860
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P2860
Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice.
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Amino acid substitution in NPC ...... plete NPC1 deficiency in mice.
@ast
Amino acid substitution in NPC ...... plete NPC1 deficiency in mice.
@en
type
label
Amino acid substitution in NPC ...... plete NPC1 deficiency in mice.
@ast
Amino acid substitution in NPC ...... plete NPC1 deficiency in mice.
@en
prefLabel
Amino acid substitution in NPC ...... plete NPC1 deficiency in mice.
@ast
Amino acid substitution in NPC ...... plete NPC1 deficiency in mice.
@en
P2093
P2860
P356
P1476
Amino acid substitution in NPC ...... plete NPC1 deficiency in mice.
@en
P2093
Guosheng Liang
James A Richardson
John M Shelton
Michael S Brown
Xuefen Xie
P2860
P304
15330-15335
P356
10.1073/PNAS.1112751108
P407
P577
2011-09-06T00:00:00Z