Title |
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) – distinct characteristics in neurons
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Published in |
BMC Cell Biology, June 2007
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DOI | 10.1186/1471-2121-8-22 |
Pubmed ID | |
Authors |
Annina Lyly, Carina von Schantz, Tarja Salonen, Outi Kopra, Jani Saarela, Matti Jauhiainen, Aija Kyttälä, Anu Jalanko |
Abstract |
Neuronal ceroid lipofuscinoses (NCLs) are collectively the most common type of recessively inherited childhood encephalopathies. The most severe form of NCL, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 gene, resulting in a deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). The deficiency of PPT1 causes a specific death of neocortical neurons by a mechanism, which is currently unclear. To understand the function of PPT1 in more detail, we have further analyzed the basic properties of the protein, especially focusing on possible differences in non-neuronal and neuronal cells. |
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