(Q43089343)

English

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

scientific article published on 23 January 2008

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

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

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

endoplasmic reticulum

1 reference

based on heuristic

inferred from title

author name string

Mark E Gelsthorpe

1

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

Nikola Baumann

2

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

Elizabeth Millard

3

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

Sarah E Gale

4

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

S Joshua Langmade

5

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

Jean E Schaffer

6

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

Daniel S Ory

7

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

language of work or name

0 references

publication date

23 January 2008

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

number of pages

8

1 reference

based on heuristic

inferred from page(s)

Journal of Biological Chemistry

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

283

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

13

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

8229-8236

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

The NPC1 protein: structure implies function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Quality control in the endoplasmic reticulum protein factory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Stress tolerance of misfolded carboxypeptidase Y requires maintenance of protein trafficking and degradative pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

NPC1 and NPC2 Regulate Cellular Cholesterol Homeostasis through Generation of Low Density Lipoprotein Cholesterol-derived Oxysterols

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Rescuing protein conformation: prospects for pharmacological therapy in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Traffic jams II: an update of diseases of intracellular transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Preferential ATP-binding cassette transporter A1-mediated cholesterol efflux from late endosomes/lysosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Traffic jam: a compendium of human diseases that affect intracellular transport processes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Conformational and temperature-sensitive stability defects of the delta F508 cystic fibrosis transmembrane conductance regulator in post-endoplasmic reticulum compartments.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Niemann-Pick type C: a disorder of cellular cholesterol trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Sterol-modulated glycolipid sorting occurs in niemann-pick C1 late endosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Proteasome-dependent endoplasmic reticulum-associated protein degradation: an unconventional route to a familiar fate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Reassessment of the subcellular localization of p63

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

25 May 2018

A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

Structural control of endoplasmic reticulum-associated degradation: effect of chemical chaperones on 3-hydroxy-3-methylglutaryl-CoA reductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

Cell biology. Protein degradation unlocked

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

Biosynthesis and degradation of CFTR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276376

15 August 2018

Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M708735200

21 January 2018

Intracellular trafficking of cholesterol monitored with a cyclodextrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/18216017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein

1 reference

https://pubmed.ncbi.nlm.nih.gov/18216017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18216017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M708735200

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 November 2017

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