Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl–protein thioesterase reduces visceral lysosomal storage and modestly prolongs …
J Hu, JY Lu, AMS Wong, LS Hynan… - Molecular genetics and …, 2012 - Elsevier
PPT1-related neuronal ceroid lipofuscinosis (NCL) is a lysosomal storage disorder caused
by deficiency in a soluble lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1).
Enzyme replacement therapy (ERT) has not been previously examined in a preclinical
animal model. Homozygous PPT1 knockout mice reproduce the known features of the
disease, developing signs of motor dysfunction at 5months of age and death by around
8months. In the current study, PPT1 knockout mice were treated with purified recombinant …
by deficiency in a soluble lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1).
Enzyme replacement therapy (ERT) has not been previously examined in a preclinical
animal model. Homozygous PPT1 knockout mice reproduce the known features of the
disease, developing signs of motor dysfunction at 5months of age and death by around
8months. In the current study, PPT1 knockout mice were treated with purified recombinant …
