A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

Abstract Background Niemann-Pick disease type C1 (NPC1) is an autosomal-recessive lipid-storage disorder with an estimated minimal incidence of 1/120,000 live births. Besides other neuronal and visceral symptoms, NPC1 patients develop spleen dysfunction, isolated spleno- or hepatosplenomegaly and in...

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Bibliographic Details
Main Authors: Anna-Maria Neßlauer, Anne Gläser, Markus Gräler, Robby Engelmann, Brigitte Müller-Hilke, Marcus Frank, Christine Burstein, Arndt Rolfs, John Neidhardt, Andreas Wree, Martin Witt, Anja U. Bräuer
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Lipids in Health and Disease
Subjects:
Niemann-pick disease type C1
Spleen
Phospholipids
PRGs
G-protein-coupling receptor
qRT-PCR
Online Access:http://link.springer.com/article/10.1186/s12944-019-1088-2

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http://link.springer.com/article/10.1186/s12944-019-1088-2

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