Article
Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span.
Genetics - 1 Apr 2006
Hickey Anthony J, Chotkowski Heather L, Singh Navjot, Ault Jeffrey G, Korey Christopher A, MacDonald Marcy E, Glaser Robert L
Abstract excerpt
Human neuronal ceroid lipofuscinoses (NCLs) are a group of genetic neurodegenerative diseases characterized by progressive death of neurons in the central nervous system (CNS) and accumulation of abnormal lysosomal storage material. Infantile NCL (INCL), the most severe form of NCL, is caused by mutations in the Ppt1 gene, which encodes the lysosomal enzyme palmitoyl-protein thioesterase 1 (Ppt1). We generated...
Topics
Join the communities discussing this publication.
