Article
A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease.
Cells - 13 Jun 2023
Hughes Michael Paul, Nelvagal Hemanth Ramesh, Coombe-Tennant Oliver, Smith Dave, Smith Claire, Massaro Giulia, Poupon-Bejuit Laura, Platt Frances Mary, Rahim Ahad Abdul
Abstract excerpt
Niemann-Pick disease type C1 (NP-C) is a prematurely lethal genetic lysosomal storage disorder with neurological and visceral pathology resulting from mutations in the NPC1 gene encoding the lysosomal transmembrane protein NPC1. There is currently no cure for NP-C, and the only disease modifying treatment, miglustat, slows disease progression but does not significantly attenuate neurological symptoms....
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