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Neuropediatrics 1997; 28(1): 27-30
DOI: 10.1055/s-2007-973661
Original articles

© Hippokrates Verlag GmbH Stuttgart

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

Sandra L. Hofmann, Laura A. Lee, Jui-Yun Lu, Linda A. Verkruyse
  • Department of Internal Medicine and the Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75235, USA
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Publication History

Publication Date:
13 March 2007 (online)

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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.

Key words

Lysosomal enzymes - Thioesterases - Infantile neuronal ceroid lipofuscinosis - Neurodegeneration - Protein acylation