(Q46529649)

English

Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations

scientific article published in July 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

NPC intracellular cholesterol transporter 2

1 reference

GOA release 2020-03-11

cholesterol homeostasis

1 reference

GOA release 2020-03-11

author name string

Karim Chikh

1

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

Céline Rodriguez

2

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

Sébastien Vey

3

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

Marie T Vanier

4

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

Gilles Millat

5

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

publication date

1 July 2005

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

26

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

1

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

20-28

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

21 January 2018

Structure and function of the NPC2 protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

Recent advances in elucidating Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20173

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20173

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/15937921

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