ArticleJournal of inherited metabolic disease2019

Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.

Abhilash P Appu et al.PubMed ↗Full text ↗Publisher ↗

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