Complex lipid trafficking in Niemann-Pick disease type C. (Q38271491)

1 September 2017

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title

Complex lipid trafficking in Niemann-Pick disease type C. (English)

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1 September 2017

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Marie T Vanier

1

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1 September 2017

26 November 2014

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Journal of Inherited Metabolic Disease

1 September 2017

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1 September 2017

38

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1 September 2017

187-199

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1 September 2017

1

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https://scigraph.springernature.com/pub.10.1007/s10545-014-9794-4

1 September 2017

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

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

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

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Niemann-Pick Type C2 protein contributes to the transport of endosomal cholesterol to mitochondria without interacting with NPC1.

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

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21 January 2018

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

21 January 2018

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The cytosolic adaptor AP-1A is essential for the trafficking and function of Niemann-Pick type C proteins

21 January 2018

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Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

21 January 2018

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

21 January 2018

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Posttranslational regulation of acid sphingomyelinase in niemann-pick type C1 fibroblasts and free cholesterol-enriched chinese hamster ovary cells

21 January 2018

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21 January 2018

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Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

21 January 2018

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21 January 2018

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Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders

21 January 2018

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21 January 2018

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Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport

21 January 2018

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Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.

21 January 2018

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Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease

21 January 2018

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Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease.

21 January 2018

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

21 January 2018

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Proteomic analysis of mouse models of Niemann-Pick C disease reveals alterations in the steady-state levels of lysosomal proteins within the brain

21 January 2018

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Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.

21 January 2018

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Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency

21 January 2018

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Brain lipids of a case of juvenile Niemann-Pick disease.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Cholesterol-binding molecules MLN64 and ORP1L mark distinct late endosomes with transporters ABCA3 and NPC1

21 January 2018

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Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases

21 January 2018

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Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

21 January 2018

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Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

21 January 2018

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Niemann-Pick disease type C

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Niemann-Pick disease type C.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Recent advances in elucidating Niemann-Pick C disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Niemann‐Pick disease type C: An update

21 January 2018

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Consequences of NPC1 and NPC2 loss of function in mammalian neurons

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Secondary lipid accumulation in lysosomal disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

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

21 January 2018

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Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation

21 January 2018

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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

21 January 2018

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Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice

21 January 2018

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Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin

21 January 2018

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Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9794-4

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

21 January 2018

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Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.

21 January 2018

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Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

21 January 2018

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12 December 2020

Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts

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12 December 2020

Regulation of the NPC2 protein-mediated cholesterol trafficking by membrane lipids

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12 December 2020

Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking.

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12 December 2020

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

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12 December 2020

Changes in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease

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12 December 2020

Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease — development and evaluation of a microprocedure

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12 December 2020

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse

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12 December 2020

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

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12 December 2020

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

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12 December 2020

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

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12 December 2020

Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts

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12 December 2020

Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media

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12 December 2020

10.1007/S10545-014-9794-4

Identifiers

DOI

1 reference

PubMed ID

25425283

Dimensions Publication ID

1 September 2017

0 references

1 reference

PubMed ID

25425283