Niemann-Pick disease type C. (Q35219271)

7 August 2017

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title

Niemann-Pick disease type C. (English)

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7 August 2017

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Vanier MT

1

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PubMed ID

12974729

7 August 2017

Millat G

series ordinal

2

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7 August 2017

1 October 2003

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7 August 2017

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7 August 2017

64

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7 August 2017

4

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7 August 2017

269-281

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Niemann-Pick disease: a review of eighteen patients.

7 August 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The cerebral defect in Tay-Sachs disease and Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Identification of HE1 as the second gene of Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The structure and function of the Niemann-Pick C1 protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Multidrug permeases and subcellular cholesterol transport

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Clinical spectrum of Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Fetal ascites: an unusual presentation of Niemann-Pick disease type C

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick disease type C. From bench to bedside

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Nova Scotia Niemann-Pick disease (type D): clinical study of 20 cases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick disease type C in adults

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-pick disease type C in neonatal cholestasis at a North American Center

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Progressive paresis of vertical gaze in lipid storage disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

An adult with a non-neuronopathic form of Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Ultrasound echogenic splenic tumors: nodular manifestation of type C Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Cerebellar degeneration in the Niemann-Pick type C mouse.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Cerebellar involvement in murine sphingomyelinosis: a new model of Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Mutation analysis of feline Niemann-Pick C1 disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Cellular pathology of lysosomal storage disorders.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann-Pick C1-deficient neurons

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Trafficking of cholesterol from cell bodies to distal axons in Niemann Pick C1-deficient neurons

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Neurofibrillary tangles in Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Accumulation and aggregation of amyloid beta-protein in late endosomes of Niemann-pick type C cells

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

NPC1 and NPC2 Regulate Cellular Cholesterol Homeostasis through Generation of Low Density Lipoprotein Cholesterol-derived Oxysterols

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Intracellular cholesterol trafficking: role of the NPC1 protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick type C mutations cause lipid traffic jam.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick type C: a disorder of cellular cholesterol trafficking

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Fate of Endogenously Synthesized Cholesterol in Niemann-Pick Type C1 Cells

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The transport of low density lipoprotein-derived cholesterol to the plasma membrane is defective in NPC1 cells

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Transport of plasma membrane-derived cholesterol and the function of Niemann-Pick C1 Protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Origin of cholesterol in myelin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

1 reference

7 January 2021

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Recent advances in elucidating Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Transmembrane molecular pump activity of Niemann-Pick C1 protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Dynamic movements of organelles containing Niemann-Pick C1 protein: NPC1 involvement in late endocytic events

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Accumulation of cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1-deficient cells

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Sterol-modulated glycolipid sorting occurs in niemann-pick C1 late endosomes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol-binding protein.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

MENTHO, a MLN64 homologue devoid of the START domain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Extra Rabs unsnarl a lipid traffic jam

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Prenatal diagnosis of Niemann-Pick diseases types A, B and C.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Effects of dietary cholesterol restriction in a feline model of Niemann-Pick type C disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Critical role for glycosphingolipids in Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00147.X

7 January 2021

10.1034/J.1399-0004.2003.00147.X

Identifiers

DOI

1 reference

7 August 2017

1 reference

PubMed ID

12974729