Palmitoyl-Protein Thioesterase and the Molecular Pathogenesis of Infantile Neuronal Ceroid Lipofuscinosis

Palmitoyl-Protein Thioesterase and the Molecular Pathogenesis of Infantile Neuronal Ceroid Lipofuscinosis

Abstract Palmitoyl-protein thioesterase (PPT) has recently been shown to be the defective enzyme underlying the infantile form of neuronal ceroid lipofuscinosis (INCL). In this paper, we review the enzymology of PPT, evidence for its localization in lysosomes, and recent advances in understanding th...

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Veröffentlicht in:Neuropediatrics 1997-02, Vol.28 (1), p.27-30
Hauptverfasser: Hofmann, Sandra L., Lee, Laura A., Lu, Jui-Yun, Verkruyse, Linda A.
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Autophagy - genetics
Cell Line, Transformed
Child
Child, Preschool
Humans
Infant
Lysosomes - enzymology
Neuronal Ceroid-Lipofuscinoses - diagnosis
Neuronal Ceroid-Lipofuscinoses - genetics
Original articles
Palmitoyl-CoA Hydrolase - deficiency
Palmitoyl-CoA Hydrolase - genetics
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Zusammenfassung:Abstract Palmitoyl-protein thioesterase (PPT) has recently been shown to be the defective enzyme underlying the infantile form of neuronal ceroid lipofuscinosis (INCL). In this paper, we review the enzymology of PPT, evidence for its localization in lysosomes, and recent advances in understanding 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 defective autophagocytic proteolysis is proposed.
ISSN:0174-304X
1439-1899
DOI:10.1055/s-2007-973661