Article
AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease.
Human molecular genetics - 1 Sept 2018
Hughes Michael P, Smith Dave A, Morris Lauren, Fletcher Claire, Colaco Alexandria, Huebecker Mylene, Tordo Julie, Palomar Nuria, Massaro Giulia, Henckaerts Els, Waddington Simon N, Platt Frances M, Rahim Ahad A
Abstract excerpt
Niemann-Pick type C disease (NP-C) is a fatal neurodegenerative lysosomal storage disorder. It is caused in 95% of cases by a mutation in the NPC1 gene that encodes NPC1, an integral transmembrane protein localized to the limiting membrane of the lysosome. There is no cure for NP-C but there is a disease-modifying drug (miglustat) that slows disease progression but with associated side effects. Here, we...
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