Article

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice

2024-06-08

Abstract excerpt

Niemann-Pick disease, type C1 (NPC1) is a rare, fatal neurodegenerative disorder caused by pathological variants in NPC1 , which encodes a lysosomal cholesterol transporter. FDA-approved treatments are limited and do not target the underlying genetic defect. Both systemic and central nervous system (CNS) delivery of AAV9-h NPC1 have shown significant disease amelioration in NPC1 murine models. To assess the impa...

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Literature Corpus work: 96be7818-a87d-54ad-b8d2-f386d7c52305
DOI: 10.1101/2024.06.07.597901

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