Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding (Q43089343)

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scientific article published on 23 January 2008

Language	Label	Description	Also known as
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

Statements

scholarly article

1 reference

Europe PubMed Central

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

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

13 November 2017

Nikola Baumann

2

1 reference

Europe PubMed Central

13 November 2017

Elizabeth Millard

3

1 reference

Europe PubMed Central

13 November 2017

Sarah E Gale

4

1 reference

Europe PubMed Central

13 November 2017

S Joshua Langmade

5

1 reference

Europe PubMed Central

13 November 2017

Jean E Schaffer

6

1 reference

Europe PubMed Central

13 November 2017

Daniel S Ory

7

1 reference

Europe PubMed Central

13 November 2017

language of work or name

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publication date

23 January 2008

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Europe PubMed Central

13 November 2017

number of pages

8

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inferred from page(s)

Journal of Biological Chemistry

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Europe PubMed Central

13 November 2017

283

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Europe PubMed Central

13 November 2017

8229-8236

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Europe PubMed Central

13 November 2017

13

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Europe PubMed Central

13 November 2017

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

1 reference

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The NPC1 protein: structure implies function.

1 reference

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25 May 2018

Quality control in the endoplasmic reticulum protein factory

1 reference

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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

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

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

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Rescuing protein conformation: prospects for pharmacological therapy in cystic fibrosis

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

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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25 May 2018

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

1 reference

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25 May 2018

1 reference

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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

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25 May 2018

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

1 reference

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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

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25 May 2018

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

1 reference

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25 May 2018

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

1 reference

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25 May 2018

Reassessment of the subcellular localization of p63

1 reference

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25 May 2018

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

1 reference

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25 May 2018

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

1 reference

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

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

1 reference

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

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

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

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Cell biology. Protein degradation unlocked

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

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Biosynthesis and degradation of CFTR.

1 reference

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15 August 2018

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

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

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

1 reference

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Intracellular trafficking of cholesterol monitored with a cyclodextrin

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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

13 November 2017

1 reference

Europe PubMed Central

13 November 2017

1 reference

Europe PubMed Central

13 November 2017

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