Article
Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep.
The Journal of clinical investigation - 17 Oct 2022
Nelvagal Hemanth R, Eaton Samantha L, Wang Sophie H, Eultgen Elizabeth M, Takahashi Keigo, Le Steven Q, Nesbitt Rachel, Dearborn Joshua T, Siano Nicholas, Puhl Ana C, Dickson Patricia I, Thompson Gerard, Murdoch Fraser, Brennan Paul M, Gray Mark, Greenhalgh Stephen N, Tennant Peter, Gregson Rachael, Clutton Eddie, Nixon James, Proudfoot Chris, Guido Stefano, Lillico Simon G, Whitelaw C Bruce A, Lu Jui-Yun, Hofmann Sandra L, Ekins Sean, Sands Mark S, Wishart Thomas M, Cooper Jonathan D
Abstract excerpt
CLN1 disease, also called infantile neuronal ceroid lipofuscinosis (NCL) or infantile Batten disease, is a fatal neurodegenerative lysosomal storage disorder resulting from mutations in the CLN1 gene encoding the soluble lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1). Therapies for CLN1 disease have proven challenging because of the aggressive disease course and the need to treat widespread areas of the...
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