| Literature DB >> 10191117 |
J Suopanki1, J Tyynelä, M Baumann, M Haltia.
Abstract
Mutations in a palmitoyl-protein thioesterase (PPT) gene cause infantile neuronal ceroid lipofuscinosis (INCL). INCL is characterized by an extreme and selective neuronal loss in cerebral cortex and retina. Using reverse transcriptase PCR we show that PPT expression is developmentally regulated in rat brain and eyes but not in spleen. The changes in the expression coincide with developmental events in the brain. These data indicate that PPT has an important role in the development of the CNS. Copyright 1999 Academic Press.Entities:
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Year: 1999 PMID: 10191117 DOI: 10.1006/mgme.1999.2839
Source DB: PubMed Journal: Mol Genet Metab ISSN: 1096-7192 Impact factor: 4.797