PALMITOYL-PROTEIN THIOESTERASE AND THE MOLECULAR PATHOGENESIS OF INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS

Authors
HOFMANN SL LEE LA LU JY VERKRUYSE LA
Citation
Sl. Hofmann et al., PALMITOYL-PROTEIN THIOESTERASE AND THE MOLECULAR PATHOGENESIS OF INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS, Neuropediatrics, 28(1), 1997, pp. 27-30
Citations number
22
Categorie Soggetti
Pediatrics,"Clinical Neurology
Journal title
Neuropediatrics → ACNP
ISSN journal
0174304X
Volume
28
Issue
1
Year of publication
1997
Pages
27 - 30
Database
ISI
SICI code
0174-304X(1997)28:1<27:PTATMP>2.0.ZU;2-I
Abstract
Palmitoyl-protein thioesterase (PPT) has recently been shown to be the defective enzyme underlying the infantile form of neuronal ceroid lip ofuscinosis (INCL). In this paper, we review the enzymology of PPT, ev idence for its localization in lysosomes, and recent advances in under standing the metabolic defect caused by PPT deficiency. Absence of PPT activity in lysosomes isolated from INCL lymphoblasts is demonstrated . A model for the formation of the storage bodies in INCL involving de fective autophagocytic proteolysis is proposed.