Carina von Schantz
Affiliation: National Public Health Institute
- Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseasesCarina von Schantz
National Public Health Institute and FIMM, Institute for Molecular Medicine, Helsinki, Finland
BMC Genomics 9:146. 2008..Both mouse-models replicate the NCL phenotype and neuropathology; the Cln1-/- model presents with early onset, severe neurodegenerative disease, whereas the Cln5-/- model produces a milder disease with a later onset...
- Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neuronsAnnina Lyly
Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Haartmaninkatu 8, Helsinki, Finland
BMC Cell Biol 8:22. 2007..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...
- Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneuronsAnu Jalanko
Department of Medical Genetics and Molecular Medicine, University of Helsinki and National Public Health Institute, Biomedicum Helsinki, Fin 00251 Helsinki, Finland
Neurobiol Dis 18:226-41. 2005..These findings make the Ppt1Deltaex4 mouse an interesting model for the inflammation-associated death of interneurons...
- High Throughput siRNA Screening Using Reverse TransfectionCarina von Schantz
Institute for Molecular Medicine Finland FIMM, University of Helsinki, Tukholmankatu 8, Helsinki, FI 00290, Finland
Methods Mol Biol 1470:25-37. 2016..Furthermore, we describe the setup for two separate methods for detecting viable and dead cells using either homogenous assays or image-based analysis. ..
- A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidaseJani Saarela
Department of Molecular Medicine, National Public Health Institute, University of Helsinki, Helsinki, Finland
Hum Mutat 24:350-1. 2004..It appears that the small amounts of active enzyme are not able to reach the lysosomes thus explaining the development of AGU disease in the patient...
- A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early agingOuti Kopra
Department of Medical Genetics and Molecular Medicine, University of Helsinki and National Public Health Institute, Biomedicum Helsinki PL, Finland
Hum Mol Genet 13:2893-906. 2004..Since the Cln5-/- mice do not exhibit significant brain atrophy, these mice could serve as models for studies on molecular processes associated with advanced aging...