Genomes and Genes
Affiliation: National Public Health Institute
- AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motifAija Kyttälä
National Public Health Institute, Department of Molecular Medicine, Biomedicum Helsinki, FIN 00290 Helsinki, Finland
J Biol Chem 280:10277-83. 2005..Our data indicate the involvement of complex sorting machinery in the trafficking of CLN3 and emphasize the diversity of parallel and sequential sorting pathways in the trafficking of membrane proteins...
- Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteinsAija Kyttälä
National Public Health Institute, Department of Molecular Medicine, Biomedicum Helsinki, Helsinki, Finland
Biochim Biophys Acta 1762:920-33. 2006..The aim of this review is to summarize the current knowledge of the functions, or proposed functions, of the different NCL proteins...
- Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complexKristiina Uusi-Rauva
Department of Molecular Medicine, National Public Health Institute and FIMM, Institute for Molecular Medicine Finland, Biomedicum, PO 104, 00251 Helsinki, Finland
Exp Cell Res 314:2895-905. 2008....
- Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartmentsKristiina Uusi-Rauva
National Institute for Health and Welfare and FIMM, Institute for Molecular Medicine Finland, Biomedicum Helsinki, Finland
Cell Mol Life Sci 69:2075-89. 2012..The data presented in this study provide novel insights into the role of CLN3 in late endosomal/lysosomal membrane transport...
- Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout miceTea Blom
National Institute for Health and Welfare, Public Health Genomics Unit, Helsinki, Finland
Dis Model Mech 6:342-57. 2013....
- The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutationsMia Lisa Schmiedt
National Institute for Health and Welfare THL, Public Health Genomics Unit, Helsinki, Finland
Hum Mutat 31:356-65. 2010..This study furthers our understanding of the basic properties of the CLN5 protein, necessary for the characterization of the consequences of disease mutations and for the planning of future therapies for vLINCL...
- Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathwayKaisu Luiro
National Public Health Institute, Department of Molecular Medicine, Biomedicum Helsinki, Finland
Hum Mol Genet 13:3017-27. 2004..These novel interactions between the microtubule-binding Hook1 and the large family of Rab GTPases also suggest a link between CLN3 function, microtubule cytoskeleton and endocytic membrane trafficking...
- Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolismAnnina Lyly
National Public Health Institute and FIMM, Institute for Molecular Medicine, Biomedicum Helsinki, PO Box 104, Fin 00251 Helsinki, Finland
Hum Mol Genet 17:1406-17. 2008..These data indicate neuron-specific changes for F(1)-complex in the Ppt1-deficient cells and give clues for a possible link between lipid metabolism and neurodegeneration in INCL...
- 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...
- Advanced feeder-free generation of induced pluripotent stem cells directly from blood cellsRas Trokovic
Research Programs Unit, Molecular Neurology and Biomedicum Stem Cell Centre, University of Helsinki, Helsinki, Finland Research Center for Stem Cell Engineering, National Institute of Advanced Industrial Science and Technology AIST, Tsukuba, Ibaraki, Japan Department of Chronic Disease Prevention and Public Health Genomics Unit, THL Biobank, National Institute for Health and Welfare THL, Helsinki, Finland Children s Hospital, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
Stem Cells Transl Med 3:1402-9. 2014..The produced iPSC clones are pluripotent and transgene-free. Together, these properties make this novel method a powerful tool for large-scale reprogramming of PBMCs and for iPSC biobanking. ..