Niemann-Pick type C: a disorder of cellular cholesterol trafficking (Q34101307)

31 July 2017

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title

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

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31 July 2017

D S Ory

1

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PubMed ID

11111100

31 July 2017

language of work or name

English

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publication date

1 December 2000

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Biochimica et Biophysica Acta

31 July 2017

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31 July 2017

1529

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31 July 2017

1-3

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31 July 2017

331-339

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Niemann-Pick disease: a review of eighteen patients.

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-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/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Recent advances in elucidating Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-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/10.1016%2FS1388-1981%2800%2900158-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/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Linkage of Niemann-Pick disease type C to human chromosome 18

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-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/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Embryonic Striatal Neurons from Niemann-Pick Type C Mice Exhibit Defects in Cholesterol Metabolism and Neurotrophin Responsiveness

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Cholesterol accumulation in tissues of the Niemann-pick type C mouse is determined by the rate of lipoprotein-cholesterol uptake through the coated-pit pathway in each organ

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Regional and developmental expression of the Npc1 mRNA in the mouse brain.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Lipoprotein metabolism in the macrophage: implications for cholesterol deposition in atherosclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Intracellular trafficking of cholesterol monitored with a cyclodextrin

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Evidence for a cholesterol transport pathway from lysosomes to endoplasmic reticulum that is independent of the plasma membrane

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Cholesterol movement in Niemann-Pick type C cells and in cells treated with amphiphiles

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Role of Niemann-Pick type C1 protein in intracellular trafficking of low density lipoprotein-derived cholesterol.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Membrane transport in the endocytic pathway

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-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/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

1 reference

7 January 2021

Topology of SREBP cleavage-activating protein, a polytopic membrane protein with a sterol-sensing domain.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-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/10.1016%2FS1388-1981%2800%2900158-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/10.1016%2FS1388-1981%2800%2900158-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/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Isolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein-cholesterol trafficking

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Maternal Pumilio acts together with Nanos in germline development in Drosophila embryos

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Sterols regulate cycling of SREBP cleavage-activating protein (SCAP) between endoplasmic reticulum and Golgi

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Cholesterol modification of hedgehog signaling proteins in animal development

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Mobilization of late-endosomal cholesterol is inhibited by Rab guanine nucleotide dissociation inhibitor

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Extensive Glycosphingolipid Depletion in the Liver and Lymphoid Organs of Mice Treated withN-Butyldeoxynojirimycin

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2800%2900158-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/10.1016%2FS1388-1981%2800%2900158-X

7 January 2021

10.1016/S1388-1981(00)00158-X

Identifiers

DOI

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release_h3j47qwjvrd2jgxf47w3o3flu4

31 July 2017

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Fatcat

https://api.fatcat.wiki/v0/release/h3j47qwjvrd2jgxf47w3o3flu4

24 November 2022

mapped directly with Wikidata item

PubMed ID

11111100

1 reference

PubMed ID

11111100