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.
about
Niemann-Pick disease type CDiagnostic workup and management of patients with suspected Niemann-Pick type C diseaseNiemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 bindingFunctional characterization of the MENTAL domain.Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.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.Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patientsAbnormal gene expression in cerebellum of Npc1-/- mice during postnatal development.Endoplasmic reticulum-associated degradation of Niemann-Pick C1: evidence for the role of heat shock proteins and identification of lysine residues that accept ubiquitin.Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.Prenatal diagnosis of Niemann-Pick diseases types A, B and C.Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.Acidic Ca2+ stores in neurodegeneration.Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child.A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient.Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking.Genome sequencing in a case of Niemann-Pick type CNew murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.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 studyRapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol ScreeningIdentification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.Molting in C. elegans.Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions.Chinese hamster ovary cell lines selected for resistance to ebolavirus glycoprotein mediated infection are defective for NPC1 expression.NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.NPC1 late endosomes contain elevated levels of non-esterified ('free') fatty acids and an abnormally glycosylated form of the NPC2 protein.Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders.Perturbed myelination process of premyelinating oligodendrocyte in Niemann-Pick type C mouse.Niemann-Pick C1 expression is not regulated by the amount of cholesterol flowing through cells in the mouse.
P2860
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P2860
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.
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Niemann-Pick C1 disease: corre ...... the cysteine-rich luminal loop
@nl
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@ast
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@en
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@en-gb
type
label
Niemann-Pick C1 disease: corre ...... the cysteine-rich luminal loop
@nl
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@ast
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@en
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@en-gb
prefLabel
Niemann-Pick C1 disease: corre ...... the cysteine-rich luminal loop
@nl
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@ast
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@en
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@en-gb
P2093
P2860
P3181
P356
P1476
Niemann-Pick C1 disease: corre ...... he cysteine-rich luminal loop.
@en
P2093
A H Fensom
D A Wenger
M T Vanier
P2860
P304
P3181
P356
10.1086/320606
P407
P577
2001-05-01T00:00:00Z