Ontology highlight
ABSTRACT:
SUBMITTER: Neßlauer AM
PROVIDER: S-EPMC6598286 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Neßlauer Anna-Maria AM Gläser Anne A Gräler Markus M Engelmann Robby R Müller-Hilke Brigitte B Frank Marcus M Burstein Christine C Rolfs Arndt A Neidhardt John J Wree Andreas A Witt Martin M Bräuer Anja U AU
Lipids in health and disease 20190628 1
<h4>Background</h4>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 infections. The mechanisms of splenomegaly and alterations of lipid metabolism-related genes in NPC1 disease are still poorly understood.<h4>Methods</h4>Here, we used an NPC1 mouse model to study a splen ...[more]