Article
A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Oct 2022
Swier Vicki J, White Katherine A, Johnson Tyler B, Sieren Jessica C, Johnson Hans J, Knoernschild Kevin, Wang Xiaojun, Rohret Frank A, Rogers Christopher S, Pearce David A, Brudvig Jon J, Weimer Jill M
Abstract excerpt
CLN2 Batten disease is a lysosomal disorder in which pathogenic variants in CLN2 lead to reduced activity in the enzyme tripeptidyl peptidase 1. The disease typically manifests around 2 to 4 years of age with developmental delay, ataxia, seizures, inability to speak and walk, and fatality between 6 and 12 years of age. Multiple Cln2 mouse models exist to better understand the etiology of the disease; however,...
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