Affiliation: National Public Health Institute
- Expression of palmitoyl protein thioesterase in neuronsO Heinonen
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, 00300, Finland
Mol Genet Metab 69:123-9. 2000..Furthermore, since a substantial amount of PPT is secreted by neurons, it is tempting to speculate that the enzyme could also have an extracellular substrate...
- CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brainO Heinonen
National Public Health Institute, Department of Human Molecular Genetics, FIN 00300 Helsinki, Finland
J Comp Neurol 426:406-12. 2000..These findings indicate that expression of CLN-1 and CLN-5 may be significant for development of a wide range of maturating neurons...
- Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouseM Peltola
Department of Human Molecular Genetics, University of Helsinki, Finland
Gene Ther 5:1314-21. 1998..These data demonstrate that the lysosomal storage in AGU can be biologically corrected and furthermore, in the brain a limited number of transduced cells can distribute AGA enzyme to the surrounding areas...
- Developmental expression of palmitoyl protein thioesterase in normal miceJ Isosomppi
Department of Human Molecular Genetics, National Public Health Institute and Department of Medical Genetics, University of Helsinki, Mannerheimintie 166, FIN 00300, Helsinki, Finland
Brain Res Dev Brain Res 118:1-11. 1999..A notable correlation with synaptophysin would suggest that PPT may have a role in the function of the synaptic machinery...
- Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neuronsA Kyttälä
Department of Human Molecular Genetics, National Public Health Institute, University of Helsinki, FIN 00300 Helsinki, Finland
J Neurosci 18:7750-6. 1998..This indicates that PC12 and N18 are not feasible cell lines to describe neuronal uptake of mannose-6-phosphate-tagged proteins. This in vitro data will form an important basis for the brain-targeted therapy of AGU...
- Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)M Lehtovirta
National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland
Hum Mol Genet 10:69-75. 2001..The current data imply that PPT has a role outside the lysosomes in the brain and may be associated with synaptic functioning. This finding opens a new route to study the neuropathological events associated with INCL...
- Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during developmentA Uusitalo
National Public Health Institute and Department of Medical Genetics, University of Helsinki, Mannerheimintie 166, Helsinki, FIN 00300, Finland
Mol Genet Metab 67:294-307. 1999..This is consistent with previous magnetic resonance imaging findings in the brains of aspartylglucosaminuria patients, revealing delayed myelination in childhood...