(Q36714243)

15 August 2017

Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease (English)

1 reference

15 August 2017

0 references

1 reference

Matthew J Elrick

1 reference

15 August 2017

Ting Yu

series ordinal

1 reference

15 August 2017

Chan Chung

series ordinal

1 reference

15 August 2017

Andrew P Lieberman

series ordinal

1 reference

15 August 2017

7 August 2012

1 reference

15 August 2017

Human Molecular Genetics

1 reference

15 August 2017

1 reference

15 August 2017

1 reference

15 August 2017

4876-4887

1 reference

describes a project that uses

15 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607480/fullTextXML

inferred from PubMed Central ID database lookup

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30 September 2017

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Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells

30 September 2017

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30 September 2017

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30 September 2017

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Constitutive reactive oxygen species generation from autophagosome/lysosome in neuronal oxidative toxicity

30 September 2017

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Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

30 September 2017

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Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors

30 September 2017

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Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

30 September 2017

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Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells

30 September 2017

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30 September 2017

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Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates.

30 September 2017

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Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

30 September 2017

1 reference

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Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis.

30 September 2017

1 reference

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Cholesterol accumulation by macrophages impairs phagosome maturation

30 September 2017

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Adapting proteostasis for disease intervention

30 September 2017

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Autophagy in the Pathogenesis of Disease

30 September 2017

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Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

30 September 2017

1 reference

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The itinerary of autophagosomes: from peripheral formation to kiss-and-run fusion with lysosomes

30 September 2017

1 reference

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A block of autophagy in lysosomal storage disorders

30 September 2017

1 reference

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p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy

30 September 2017

1 reference

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Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects

30 September 2017

1 reference

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A guided tour into subcellular colocalization analysis in light microscopy

30 September 2017

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Loss of autophagy in the central nervous system causes neurodegeneration in mice

30 September 2017

1 reference

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Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

30 September 2017

1 reference

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Lipid droplets: a unified view of a dynamic organelle

30 September 2017

1 reference

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Automated microscopy screening for compounds that partially revert cholesterol accumulation in Niemann-Pick C cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Macroautophagy--a novel Beta-amyloid peptide-generating pathway activated in Alzheimer's disease

30 September 2017

1 reference

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Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease

30 September 2017

1 reference

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The molecular machinery of autophagy: unanswered questions

30 September 2017

1 reference

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The role of autophagy during the early neonatal starvation period

30 September 2017

1 reference

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Consequences of NPC1 and NPC2 loss of function in mammalian neurons

30 September 2017

1 reference

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Lipid and cholesterol trafficking in NPC.

30 September 2017

1 reference

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Role for Rab7 in maturation of late autophagic vacuoles

30 September 2017

1 reference

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Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

30 September 2017

1 reference

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Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care

30 September 2017

1 reference

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Niemann-Pick disease type C.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

A novel protein complex linking the delta 2 glutamate receptor and autophagy: implications for neurodegeneration in lurcher mice

30 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

30 September 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Late endosome motility depends on lipids via the small GTPase Rab7.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Regulation of phospholipase C-gamma activity by glycosphingolipids

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Lysosomal cysteine proteases: facts and opportunities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Intracellular protein catabolism and its control during nutrient deprivation and supply

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Inhibition by insulin of the formation of autophagic vacuoles in rat liver. A morphometric approach to the kinetics of intracellular degradation by autophagy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Increased activity and altered subcellular distribution of lysosomal enzymes determine neuronal vulnerability in Niemann-Pick type C1-deficient mice

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

pH-dependent regulation of lysosomal calcium in macrophages

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Neurofibrillary tangles in Niemann-Pick disease type C.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Sphingolipid storage affects autophagic metabolism of the amyloid precursor protein and promotes Abeta generation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Reevaluation of neurodegeneration in lurcher mice: constitutive ion fluxes cause cell death with, not by, autophagy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

An in vitro model of Fabry disease

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Rab7 is required for the normal progression of the autophagic pathway in mammalian cells

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in the Niemann-Pick type C murine model.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Degeneration of neurons and glia in the Niemann-Pick C mouse is unrelated to the low-density lipoprotein receptor

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Microtubule-associated protein tau, heparan sulphate and alpha-synuclein in several neurodegenerative diseases with dementia

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Cerebellar degeneration in the Niemann-Pick type C mouse

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607480

Elevated lysosomal pH in Mucolipidosis type IV cells

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22872701

12 December 2020

inferred from PubMed ID database lookup

The intracellular transport of low density lipoprotein-derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3-beta-[2-(diethylamino)ethoxy]androst-5-en-17-one

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22872701

12 December 2020

inferred from PubMed ID database lookup

Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22872701

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDS324

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

22872701

1 reference