Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats? - Wikidata - awgldk - TriplyDB

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

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Niemann-Pick type C pathogenesis and treatment: from statins to sugars.An "exacerbate-reverse" strategy in yeast identifies histone deacetylase inhibition as a correction for cholesterol and sphingolipid transport defects in human Niemann-Pick type C disease.Sterols and sphingolipids: dynamic duo or partners in crime?Yeast lipid metabolism at a glance.Exacerbating and reversing lysosomal storage diseases: from yeast to humans.A comparison of the molecular organization of genomic regions associated with resistance to common bacterial blight in two Phaseolus vulgaris genotypes Recent Advances in Ergosterol Biosynthesis and Regulation Mechanisms in Saccharomyces cerevisiae.Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.Advances in Human Biology: Combining Genetics and Molecular Biophysics to Pave the Way for Personalized Diagnostics and Medicine

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Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

http://www.wikidata.org/entity/Q37247214

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

@tr

scientific article published on June 2007

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

@en

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

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type

label

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

@en

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

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prefLabel

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

@en

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

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17460875.2.3.357

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Clinical Lipidology

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Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats?

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Andrew B Munkacsi

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Anthony F Porto

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Stephen L Sturley

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P2860

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

Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-acti

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

NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols

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

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease

Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells

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

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357-367

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scholarly article

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10.2217/17460875.2.3.357

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3

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2

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19578548

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2704495

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