Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells (Q39732986)

14 September 2017

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells (English)

1 reference

14 September 2017

9

Dirk Grimm

1 reference

14 September 2017

Darius Ebrahimi-Fakhari

1

1 reference

14 September 2017

Lara Wahlster

2

1 reference

14 September 2017

Fabian Bartz

3

1 reference

14 September 2017

Jennifer Werenbeck-Ueding

4

1 reference

14 September 2017

Maria Praggastis

5

1 reference

14 September 2017

Jessie Zhang

6

1 reference

14 September 2017

Brigitte Joggerst-Thomalla

7

1 reference

14 September 2017

Susanne Theiss

8

1 reference

14 September 2017

Daniel S Ory

10

1 reference

14 September 2017

Heiko Runz

11

1 reference

14 September 2017

4 July 2016

1 reference

14 September 2017

Human Molecular Genetics

1 reference

14 September 2017

25

1 reference

14 September 2017

16

1 reference

14 September 2017

3588-3599

1 reference

describes a project that uses

14 September 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5179952/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Chronic administration of an HDAC inhibitor treats both neurological and systemic Niemann-Pick type C disease in a mouse model

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A Global Map of Lipid-Binding Proteins and Their Ligandability in Cells.

14 September 2017

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A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele

14 September 2017

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In vivo genome editing using Staphylococcus aureus Cas9

14 September 2017

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Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

14 September 2017

1 reference

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

14 September 2017

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Complex lipid trafficking in Niemann-Pick disease type C.

14 September 2017

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Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

14 September 2017

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Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

14 September 2017

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Niemann-Pick disease type C symptomatology: an expert-based clinical description

14 September 2017

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Treatment of Niemann--pick type C disease by histone deacetylase inhibitors.

14 September 2017

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Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

14 September 2017

1 reference

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RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function

14 September 2017

1 reference

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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

14 September 2017

1 reference

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Disease and patient characteristics in NP-C patients: findings from an international disease registry

14 September 2017

1 reference

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Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

14 September 2017

1 reference

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Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease

14 September 2017

1 reference

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Niemann–Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding

14 September 2017

1 reference

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Distinct RolesIn Vivofor the Ubiquitin–Proteasome System and the Autophagy–Lysosomal Pathway in the Degradation of α-Synuclein

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Lysosomal Lipid Storage Diseases

14 September 2017

1 reference

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Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder.

14 September 2017

1 reference

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Function of the Niemann–Pick type C proteins and their bypass by cyclodextrin

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Improved structure, function and compatibility for CellProfiler: modular high-throughput image analysis software

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Niemann-Pick disease type C

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Identification of cholesterol-regulating genes by targeted RNAi screening

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking

14 September 2017

1 reference

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NPC-db, a Niemann-Pick type C disease gene variation database

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Adeno-associated virus vectors for short hairpin RNA expression

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

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

14 September 2017

1 reference

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

RNA interference against TMEM97 inhibits cell proliferation, migration, and invasion in glioma cells

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Niemann-pick type C1 (NPC1) overexpression alters cellular cholesterol homeostasis

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Lysobisphosphatidic acid controls endosomal cholesterol levels

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Inhibition of intracellular cholesterol transport alters presenilin localization and amyloid precursor protein processing in neuronal cells.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179952

Down-regulated MAC30 expression inhibits proliferation and mobility of human gastric cancer cells

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27378690

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDW204

1 reference

14 September 2017

1 reference

14 September 2017

PubMed publication ID

27378690

1 reference