NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
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Niemann-Pick disease type CTopological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-actiNiemann-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.Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotypeDeficiency of niemann-pick type C-1 protein impairs release of human immunodeficiency virus type 1 and results in Gag accumulation in late endosomal/lysosomal compartmentsTelomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomesCell biology. Metabolic control of cell deathNovel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.Expansion of genetic testing in the division of functional genomics, research center for bioscience and technology, tottori university from 2000 to 2013.PALS db: Putative Alternative Splicing database.Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.An "exacerbate-reverse" strategy in yeast identifies histone deacetylase inhibition as a correction for cholesterol and sphingolipid transport defects in human Niemann-Pick type C disease.Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child.Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking.Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational studyClinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.Posttranslational regulation of acid sphingomyelinase in niemann-pick type C1 fibroblasts and free cholesterol-enriched chinese hamster ovary cells.Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.
P2860
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P2860
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
description
1999 nî lūn-bûn
@nan
1999 թուականին հրատարակուած գիտական յօդուած
@hyw
1999 թվականին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@ast
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@en
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@nl
type
label
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@ast
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@en
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@nl
prefLabel
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@ast
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@en
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@nl
P2093
P356
P1433
P1476
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
@en
P2093
H Ninomiya
J A Morris
M T Vanier
P2888
P356
10.1007/S004390051057
P407
P577
1999-01-01T00:00:00Z
P6179
1054516692