Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop.
about
Niemann-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.The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.Novel 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.Niemann-Pick type C disease and intracellular cholesterol trafficking.Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts.Lipid imbalance in the neurological disorder, Niemann-Pick C disease.The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts.Cholesterol supply and SREBPs modulate transcription of the Niemann-Pick C-1 gene in steroidogenic tissues.Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.The role and regulation of the Niemann-Pick C1 gene in adrenal steroidogenesis.Niemann-Pick C1 expression is not regulated by the amount of cholesterol flowing through cells in the mouse.Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
P2860
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P2860
Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop.
description
2000 nî lūn-bûn
@nan
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
2000年论文
@zh
2000年论文
@zh-cn
name
Determinants of NPC1 expressio ...... nce of a "cysteine-rich" loop.
@en
type
label
Determinants of NPC1 expressio ...... nce of a "cysteine-rich" loop.
@en
prefLabel
Determinants of NPC1 expressio ...... nce of a "cysteine-rich" loop.
@en
P2093
P356
P1476
Determinants of NPC1 expressio ...... nce of a "cysteine-rich" loop.
@en
P2093
Blanchette-Mackie EJ
Pentchev PG
Strauss JF 3rd
P304
P356
10.1006/EXCR.2000.4976
P407
P577
2000-08-01T00:00:00Z