Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport (Q28594812)

1

1 reference

1 February 2017

Jennifer A. Wiseman

2

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1 February 2017

Mukarram El-Banna

3

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1 February 2017

Sandy M. Price

4

1 reference

1 February 2017

Lucie Verot

5

1 reference

1 February 2017

G. Stephen Tint

7

1 reference

1 February 2017

Marie T. Vanier

8

1 reference

1 February 2017

Steven U. Walkley

9

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1 February 2017

Peter Lobel

Proceedings of the National Academy of Sciences of the United States of America

10

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1 February 2017

language of work or name

English

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publication date

20 April 2004

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1 February 2017

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1 February 2017

101

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1 February 2017

5886–5891

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1 February 2017

16

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1 February 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

Transmembrane molecular pump activity of Niemann-Pick C1 protein

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

17 March 2017

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

17 March 2017

https://api.crossref.org/works/10.1073/PNAS.0308456101

22 April 2017

https://api.crossref.org/works/10.1073%2FPNAS.0308456101

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

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

Multidrug permeases and subcellular cholesterol transport

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

Cellular pathology of lysosomal storage disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

Lysosome lipid storage disorder in NCTR-BALB/c mice. II. Morphologic and cytochemical studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reversed-phase columns

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

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

3 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0308456101

Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0308456101

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0308456101

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0308456101

Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=395893

A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice

27 November 2018

1 reference

12 December 2020

An assay to detect glycoproteins that contain mannose 6-phosphate

1 reference

12 December 2020

High-resolution mapping of the spm (Niemann-Pick Type C) locus on mouse chromosome 18

1 reference

12 December 2020

A modifier of Niemann Pick C 1 maps to mouse chromosome 19

1 reference

12 December 2020

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

1 reference

12 December 2020

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0308456101

1 reference

4565586

ADS bibcode

2004PNAS..101.5886S

0 references

4565586

1 reference

1 reference

1 reference