Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage (Q35771175)

10 August 2017

title

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage (English)

1 reference

10 August 2017

Eugen Mengel

4

1 reference

10 August 2017

Carolina Tängemo

1

1 reference

10 August 2017

Dominik Weber

series ordinal

2

1 reference

10 August 2017

Susanne Theiss

series ordinal

3

1 reference

10 August 2017

Heiko Runz

series ordinal

5

1 reference

10 August 2017

publication date

17 January 2011

1 reference

Journal of Lipid Research

10 August 2017

published in

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10 August 2017

volume

52

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10 August 2017

issue

4

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10 August 2017

page(s)

813-825

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describes a project that uses

10 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3284170/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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12 July 2018

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Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale

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Sterols regulate ER-export dynamics of secretory cargo protein ts-O45-G.

12 July 2018

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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

12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

21 January 2018

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

21 January 2018

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Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease

21 January 2018

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

21 January 2018

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Molecular analysis of 30 Niemann-Pick type C patients from Spain

21 January 2018

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12 December 2020

Staining of cholesterol with the fluorescent antibiotic "filipin"

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12 December 2020

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

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12 December 2020

Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts

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12 December 2020

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

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12 December 2020

Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: insights on normal metabolism of HDL and LDL gained from the NP-C mutation

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12 December 2020

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

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12 December 2020

Identifiers

DOI

10.1194/JLR.P013524

1 reference

10 August 2017

1 reference

10 August 2017

1 reference