(Q37247214)

19 August 2017

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats? (English)

1 reference

19 August 2017

Andrew B Munkacsi

1

1 reference

19 August 2017

Anthony F Porto

series ordinal

2

1 reference

19 August 2017

Stephen L Sturley

series ordinal

3

1 reference

19 August 2017

1 June 2007

1 reference

19 August 2017

1 reference

19 August 2017

2

1 reference

19 August 2017

3

1 reference

19 August 2017

357-367

1 reference

The Niemann-Pick type C2 protein loads isoglobotrihexosylceramide onto CD1d molecules and contributes to the thymic selection of NKT cells

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

The natural history of Niemann-Pick disease type C in the UK.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Cholesterol dysfunction in neurodegenerative diseases: is Huntington's disease in the list?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Saccharomyces cerevisiae Npc2p is a functionally conserved homologue of the human Niemann-Pick disease type C 2 protein, hNPC2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

A yeast model system for functional analysis of the Niemann-Pick type C protein 1 homolog, Ncr1p

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Mutations of a Drosophila NPC1 gene confer sterol and ecdysone metabolic defects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

The target of ezetimibe is Niemann-Pick C1-Like 1 (NPC1L1)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Cholesterol homeostasis failure as a unifying cause of synaptic degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Bi-directional protein transport between the ER and Golgi

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

The pathophysiology and mechanisms of NP-C disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Consequences of NPC1 and NPC2 loss of function in mammalian neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Metazoan and microbial models of Niemann-Pick Type C disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

The NPC1 protein: structure implies function.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Niemann-Pick C research from mouse to gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Nuclear receptor signaling in the control of cholesterol homeostasis: have the orphans found a home?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Transmembrane molecular pump activity of Niemann-Pick C1 protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Complementation studies in human and feline Niemann-Pick type C disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

Cn3D: a new generation of three-dimensional molecular structure viewer

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

The sterol-sensing domain of the Niemann-Pick C1 (NPC1) protein regulates trafficking of low density lipoprotein cholesterol

26 June 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal cholesterol transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

Flux of fatty acids through NPC1 lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

NPC1 late endosomes contain elevated levels of non-esterified ('free') fatty acids and an abnormally glycosylated form of the NPC2 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

A model for niemann-pick type C disease in the nematode Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

Drosophila NPC1b promotes an early step in sterol absorption from the midgut epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

Ncr1p, the yeast ortholog of mammalian Niemann Pick C1 protein, is dispensable for endocytic transport

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2704495

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

3 September 2018

1 reference

https://api.crossref.org/works/10.2217%2F17460875.2.3.357

21 January 2018

Identifiers

DOI

10.2217/17460875.2.3.357

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19578548

1 reference