Quantified increases of cholesterol, total lipid and globotriaosylceramide in filipin-positive Niemann-Pick type C fibroblasts (Q43542970)

24 November 2017

title

Quantified increases of cholesterol, total lipid and globotriaosylceramide in filipin-positive Niemann-Pick type C fibroblasts (English)

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24 November 2017

Harzer K

1

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24 November 2017

Kustermann-Kuhn B

series ordinal

2

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24 November 2017

publication date

1 March 2001

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24 November 2017

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24 November 2017

volume

305

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24 November 2017

issue

1-2

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24 November 2017

page(s)

65-73

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The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

24 November 2017

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

7 January 2021

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

7 January 2021

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Role of Niemann-Pick type C1 protein in intracellular trafficking of low density lipoprotein-derived cholesterol

7 January 2021

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

7 January 2021

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Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype.

7 January 2021

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

7 January 2021

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

7 January 2021

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Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family

7 January 2021

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

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Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

7 January 2021

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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

7 January 2021

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NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

7 January 2021

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Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase

7 January 2021

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

7 January 2021

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Accumulation of cholesterol and GM2 ganglioside in cells cultured in the presence of progesterone: an implication for the basic defect in Niemann-Pick disease type C.

7 January 2021

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Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann-Pick disease type C.

7 January 2021

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An adult with a non-neuronopathic form of Niemann-Pick C disease

7 January 2021

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Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

7 January 2021

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Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group

7 January 2021

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Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1.

7 January 2021

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Niemann-Pick disease type C

7 January 2021

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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

7 January 2021

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Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization

7 January 2021

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CD19 has a potential CD77 (globotriaosyl ceramide)-binding site with sequence similarity to verotoxin B-subunits: implications of molecular mimicry for B cell adhesion and enterohemorrhagic Escherichia coli pathogenesis

7 January 2021

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Normal mitochondrial DNA and respiratory chain activity in familial dysautonomia fibroblasts

7 January 2021

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Globotriaosyl ceramide and globoside as major glycolipid components of fibroblasts in scirrhous gastric carcinoma tissues.

7 January 2021

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Adult Niemann-Pick disease type C mimicking features of multiple sclerosis

7 January 2021

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10.1016/S0009-8981(00)00421-6

7 January 2021

Identifiers

DOI

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24 November 2017

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