(1) Molecular Neurogenetics Unit, Massachusetts General Hospital, Bldg14913thStreet, 02129 Charlestown, MA, USA;(2) Department of Biology, College of Charleston, 66 George Street, 29424 Charleston, SC, USA
Abstract:
Background
The infantile onset form of Neuronal Ceroid Lipofuscinoses (INCL) is the earliest and most severe form of NCL, with neurological symptoms that reflect massive neurodegeneration in the CNS and retina. INCL is due to recessively inherited mutations at the CLN1 locus. This locus encodes the evolutionarily conserved enzyme palmitoyl-protein thioesterase 1 (PPT1), indicating an essential role for protein palmitoylation in normal neuronal function.
