Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep

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 di...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9566914/
https://www.ncbi.nlm.nih.gov/pubmed/36040802
http://dx.doi.org/10.1172/JCI163107

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