Defective cholesterol trafficking in Niemann-Pick C-deficient cells (Q37736657)

22 August 2017

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title

Defective cholesterol trafficking in Niemann-Pick C-deficient cells (English)

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Niemann–Pick disease, type C

22 August 2017

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Kyle B Peake

1

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PubMed ID

20416299

22 August 2017

Jean E Vance

series ordinal

2

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PubMed ID

20416299

22 August 2017

language of work or name

English

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publication date

21 April 2010

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22 August 2017

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22 August 2017

584

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22 August 2017

2731-2739

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22 August 2017

13

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Niemann-Pick disease type C.

22 August 2017

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

A receptor-mediated pathway for cholesterol homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Structural Basis of Sterol Binding by NPC2, a Lysosomal Protein Deficient in Niemann-Pick Type C2 Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Purified NPC1 protein. I. Binding of cholesterol and oxysterols to a 1278-amino acid membrane protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Characterization of fluorescent sterol binding to purified human NPC1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Transmembrane molecular pump activity of Niemann-Pick C1 protein

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Flux of fatty acids through NPC1 lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Transport of LDL-derived cholesterol from the NPC1 compartment to the ER involves the trans-Golgi network and the SNARE protein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Receptor-mediated and bulk-phase endocytosis cause macrophage and cholesterol accumulation in Niemann-Pick C disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Genetic variations and treatments that affect the lifespan of the NPC1 mouse

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Sphingolipid storage induces accumulation of intracellular cholesterol by stimulating SREBP-1 cleavage

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Long-term miglustat therapy in children with Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

ARF6-mediated endosome recycling reverses lipid accumulation defects in Niemann-Pick Type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Niemann-Pick C1 protein facilitates the efflux of the anticancer drug daunorubicin from cells according to a novel vesicle-mediated pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Mitochondrial cholesterol loading exacerbates amyloid beta peptide-induced inflammation and neurotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Mitochondrial free cholesterol loading sensitizes to TNF- and Fas-mediated steatohepatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cholesterol accumulation in tissues of the Niemann-pick type C mouse is determined by the rate of lipoprotein-cholesterol uptake through the coated-pit pathway in each organ

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cholesterol accumulation and liver cell death in mice with Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Ontogenesis and regulation of cholesterol metabolism in the central nervous system of the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Marked differences in cholesterol synthesis between neurons and glial cells from postnatal rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Knockout of the cholesterol 24-hydroxylase gene in mice reveals a brain-specific mechanism of cholesterol turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann-Pick C1-deficient neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemann-Pick type C1 mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Partial blockage of sterol biosynthesis with a squalene synthase inhibitor in early postnatal Niemann-Pick type C npcnih null mice brains reduces neuronal cholesterol accumulation, abrogates astrogliosis, but may inhibit myelin maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Liver X receptor activation enhances cholesterol loss from the brain, decreases neuroinflammation, and increases survival of the NPC1 mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Brainstem neuropathology in a mouse model of Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Neurodegeneration in Niemann-Pick type C disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/- mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Trafficking of cholesterol from cell bodies to distal axons in Niemann Pick C1-deficient neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cholesterol-dependent balance between evoked and spontaneous synaptic vesicle recycling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Defects of synaptic vesicle turnover at excitatory and inhibitory synapses in Niemann-Pick C1-deficient neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Niemann-Pick disease type C yields possible clue for why cerebellar neurons do not form neurofibrillary tangles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Neurofibrillary tangles in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Generation and function of astroglial lipoproteins from Niemann-Pick type C1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Resting microglial cells are highly dynamic surveillants of brain parenchyma in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Microglia: a sensor for pathological events in the CNS

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Establishment and characterization of immortalized Schwann cells from murine model of Niemann-Pick disease type C (spm/spm).

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann-Pick C mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Allopregnanolone treatment delays cholesterol accumulation and reduces autophagic/lysosomal dysfunction and inflammation in Npc1-/- mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cellular cholesterol efflux mediated by cyclodextrins

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Fate of Endogenously Synthesized Cholesterol in Niemann-Pick Type C1 Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

Differential Regulation of ATP Binding Cassette Protein A1 Expression and ApoA-I Lipidation by Niemann-Pick Type C1 in Murine Hepatocytes and Macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2010.04.047

10.1016/J.FEBSLET.2010.04.047

21 January 2018

Identifiers

DOI

1 reference

22 August 2017

1 reference

PubMed ID

20416299