INCL-tauti
Tautimekanismin tutkimus
PPT1-proteiinin tutkimus
Tunnetut geenimutaatiot
Kokeelliset hoitomenetelmät
2013: Identification of palmitoyl protein thioesterase 1 in human THP1 monocytes and macrophages and characterization of unique biochemical activities for this enzyme
2010: Structural basis of neuronal ceroid-lipofuscinosis 1
1994: Molecular cloning and expression of palmitoyl-protein thioesterase
1993: Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras