Article
Attenuation of the Niemann-Pick type C2 disease phenotype by intracisternal administration of an AAVrh.10 vector expressing Npc2.
Experimental neurology - 1 Aug 2018
Markmann Sandra, J Christie-Reid Jasmine, Rosenberg Jonathan B, De Bishnu P, Kaminsky Stephen M, Crystal Ronald G, Sondhi Dolan
Abstract excerpt
Niemann-Pick type C2 (NPC2) disease is a rare, neurodegenerative disorder caused by mutations in the NPC2 gene, leading to lysosomal accumulation of unesterified cholesterol and other lipids. It is characterized by hepatosplenomegaly, liver dysfunction and severe neurological manifestations, resulting in early death. There is no effective therapy for NPC2 disease. Here, we evaluated the effectiveness of an...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.