Article
Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1.
Journal of neuroscience research - 15 Mar 2005
Porter Morwenna Y, Turmaine Mark, Mole Sara E
Abstract excerpt
Infantile neuronal ceroid lipofuscinosis (INCL; Batten disease) is a severe neurodegenerative disorder of childhood characterized by the accumulation of autofluorescent storage material in lysosomes. It is caused by mutation of the CLN1/PPT1 gene, which encodes the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1), but the mechanism of disease pathogenesis and substrates for the enzyme are unknown....
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