Anu Jalanko

Summary

Affiliation: National Public Health Institute
Country: Finland

Publications

  1. ncbi Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
    Juha Isosomppi
    Department of Molecular Medicine, National Public Health Institute and Department of Medical Genetics, University of Helsinki, Finland
    Hum Mol Genet 11:885-91. 2002
  2. ncbi Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons
    Anu 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
  3. ncbi Stress-induced expression of a novel variant of human fumarate hydratase (FH)
    Heli J Lehtonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Gene Expr 14:59-69. 2007
  4. doi Neuronal ceroid lipofuscinoses
    Anu Jalanko
    National Public Health Institute, Department of Molecular Medicine and FIMM, Institute for Molecular Medicine Finland, Biomedicum, PO 104, 00251 Helsinki, Finland
    Biochim Biophys Acta 1793:697-709. 2009
  5. ncbi From genes to systems: new global strategies for the characterization of NCL biology
    Anu Jalanko
    National Public Health Institute, Department of Molecular Medicine, Biomedicum Helsinki, Helsinki, Finland
    Biochim Biophys Acta 1762:934-44. 2006
  6. pmc Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice
    Tea Blom
    National Institute for Health and Welfare, Public Health Genomics Unit, Helsinki, Finland
    Dis Model Mech 6:342-57. 2013
  7. doi Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex
    Kristiina 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
  8. pmc Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons
    Annina Lyly
    Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Haartmaninkatu 8, Helsinki, Finland
    BMC Cell Biol 8:22. 2007
  9. ncbi Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction
    Laura Ahtiainen
    National Public Health Institute, Department of Molecular Medicine, Biomedicum Helsinki, PO Box 104, 00251 Helsinki, Finland
    Neurobiol Dis 28:52-64. 2007
  10. ncbi Sialin expression in the CNS implicates extralysosomal function in neurons
    Nina Aula
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, 00290 Helsinki, Finland
    Neurobiol Dis 15:251-61. 2004

Collaborators

Detail Information

Publications36

  1. ncbi Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
    Juha Isosomppi
    Department of Molecular Medicine, National Public Health Institute and Department of Medical Genetics, University of Helsinki, Finland
    Hum Mol Genet 11:885-91. 2002
    ..This would imply that the pathogenesis of vLINCL would be associated with the defective lysosomal trafficking, preventing the normal biological function of the corresponding polypeptide...
  2. ncbi Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons
    Anu 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...
  3. ncbi Stress-induced expression of a novel variant of human fumarate hydratase (FH)
    Heli J Lehtonen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Gene Expr 14:59-69. 2007
    ..Heat shock and prolonged hypoxia increased FHv expression in a cell line (HTB 115) by nine- and fourfold, respectively. These results suggest that FHv has an alternative function outside the TCAC related to cellular stress response...
  4. doi Neuronal ceroid lipofuscinoses
    Anu Jalanko
    National Public Health Institute, Department of Molecular Medicine and FIMM, Institute for Molecular Medicine Finland, Biomedicum, PO 104, 00251 Helsinki, Finland
    Biochim Biophys Acta 1793:697-709. 2009
    ..This review summarizes the current knowledge of the NCL proteins, basic characteristics of each disease and studies of pathogenetic mechanisms in animal models of these diseases...
  5. ncbi From genes to systems: new global strategies for the characterization of NCL biology
    Anu Jalanko
    National Public Health Institute, Department of Molecular Medicine, Biomedicum Helsinki, Helsinki, Finland
    Biochim Biophys Acta 1762:934-44. 2006
    ..The combined analyses of the global information should provide means to expose all the NCL-associated molecular pathways...
  6. pmc Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice
    Tea Blom
    National Institute for Health and Welfare, Public Health Genomics Unit, Helsinki, Finland
    Dis Model Mech 6:342-57. 2013
    ....
  7. doi Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex
    Kristiina 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
    ....
  8. pmc Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons
    Annina 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...
  9. ncbi Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction
    Laura Ahtiainen
    National Public Health Institute, Department of Molecular Medicine, Biomedicum Helsinki, PO Box 104, 00251 Helsinki, Finland
    Neurobiol Dis 28:52-64. 2007
    ..This study established that the neuronal deregulation in INCL is linked to neuronal maturation, lipid metabolism and calcium homeostasis...
  10. ncbi Sialin expression in the CNS implicates extralysosomal function in neurons
    Nina Aula
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, 00290 Helsinki, Finland
    Neurobiol Dis 15:251-61. 2004
    ..These data demonstrate a nonlysosomal localization of sialin in neurons and would imply a role for sialin in the secretory processes of neuronal cells...
  11. pmc Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases
    Carina 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...
  12. doi Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism
    Annina 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...
  13. pmc Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL
    Carina von Schantz
    The National Institute for Health and Welfare and FIMM, Institute for Molecular Medicine Finland, Biomedicum Helsinki, Finland
    Neurobiol Dis 34:308-19. 2009
    ..These data provide unexpected evidence for a distinctive sequence of neuron loss in the thalamocortical system of Cln5-/- mice, diametrically opposed to that seen in other forms of NCL...
  14. ncbi A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
    Outi 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...
  15. ncbi Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing
    Laura Ahtiainen
    National Public Health Institute, Department of Molecular Medicine, Biomedicum Helsinki, P O Box 104, 00251 Helsinki, Finland
    Exp Cell Res 312:1540-53. 2006
    ..These data provide new insights into the metabolism of PPT1-deficient cells and offer a basis for further studies on cellular processes causing neuronal death in INCL and other neurodegenerative diseases...
  16. ncbi Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments
    Kaisu Luiro
    Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Helsinki, Finland
    J Neurosci Res 84:1124-38. 2006
    ..The data suggests a link between the mitochondrial dysfunction and cytoskeleton-mediated presynaptic inhibition, thus providing a foundation for further investigation of the disease mechanism underlying JNCL disease...
  17. ncbi AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif
    Aija 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...
  18. doi The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations
    Mia 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...
  19. ncbi The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain
    Ville Holmberg
    Department of Molecular Medicine, National Public Health Institute, Fin 00251 Helsinki, Finland
    Neurobiol Dis 16:29-40. 2004
    ..In vitro expression of Cln5 in COS-1, HeLa, and neuronal cells further implied that mouse Cln5 is a soluble lysosomal glycoprotein, closely resembling human CLN5...
  20. ncbi Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse
    Salli Virta
    Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, P O Box 104, Fin 00251 Helsinki, Finland
    J Gene Med 8:699-706. 2006
    ..In this study we investigated the efficiency of nonviral promoters in adenovirus-mediated gene therapy...
  21. doi Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments
    Kristiina 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...
  22. ncbi A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase
    Jani 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...
  23. doi Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice
    Mervi Kuronen
    Folkhalsan Institute of Genetics, Haartmaninkatu 8, Helsinki, Finland
    Neurobiol Dis 47:444-57. 2012
    ..However, in contrast to other previously characterized NCL models, the Cln8(mnd) mouse shows relatively mild and late appearing pathology within the thalamocortical visual pathway...
  24. doi Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism
    Mia Lisa Schmiedt
    National Institute for Health and Welfare THL, Public Health Genomics Unit, Helsinki, Finland
    Neurobiol Dis 46:19-29. 2012
    ..Taken together, these data provide significant new information about events associated with Cln5-deficiency, revealing altered myelination and disturbances in lipid metabolism, together with an early neuroimmune response...
  25. pmc Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression
    Anniina Raitila
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Am J Pathol 177:1969-76. 2010
    ..This model constitutes a tool to further study AIP-associated pituitary tumorigenesis and may be potentially valuable in efforts to develop therapeutic strategies to treat pituitary adenomas...
  26. ncbi Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway
    Kaisu 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...
  27. ncbi Palmitoyl protein thioesterase 1 is targeted to the axons in neurons
    Laura Ahtiainen
    National Public Health Institute, Department of Molecular Medicine, 00290 Helsinki, Finland
    J Comp Neurol 455:368-77. 2003
    ..Axonal localization of PPT1 was confirmed by double labeling with synaptophysin and postembedding immunoelectron microscopy. The polarized axonal targeting of PPT1 may well indicate a role for PPT1 in the exocytotic pathway of neurons...
  28. pmc Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
    Henna Tyynismaa
    Department of Neurology and Programme of Neurosciences, University of Helsinki, 00290, Helsinki, Finland
    Proc Natl Acad Sci U S A 102:17687-92. 2005
    ..This model is a valuable tool for therapy development and testing for adult-onset mitochondrial disorders...
  29. doi Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach
    Enzo Scifo
    Meilahti Clinical Proteomics Core Facility, Institute of Biomedicine Anatomy, and Finnish Graduate School of Neuroscience, University of Helsinki, Helsinki, Finland
    J Proteome Res 12:2101-15. 2013
    ..Our findings support previously suggested involvement of CLN3 in transmembrane transport, lipid homeostasis and neuronal excitability, as well as link it to G-protein signaling and protein folding/sorting in the ER...
  30. ncbi Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin
    Nina Aula
    Department of Molecular Medicine, Biomedicum, National Public Health Institute, Haartmaninkatu 8, 00290, Helsinki, Finland
    Mol Genet Metab 77:99-107. 2002
    ..These findings are in line with the phenotypic differences between SD and ISSD, the former presenting mental retardation with long life span in contrast to the latter being an early fatal disorder...
  31. ncbi Aspartylglucosaminidase (AGA) is efficiently produced and endocytosed by glial cells: implication for the therapy of a lysosomal storage disorder
    Salli Harkke
    National Public Health Institute, Department of Molecular Medicine, and Center of Excellence in Disease Genetics, The Academy of Finland, Biomedicum, National Public Health Institute, PL 104, Fin 00251 Helsinki, Finland
    J Gene Med 5:472-82. 2003
    ..Consequently, only a minority of target cells need to be corrected. Here, we wanted to determine which cell type, neurons or glia would better produce AGA to be transported to adjacent cells for use in possible treatment strategies...
  32. ncbi Engagement of activin and bone morphogenetic protein signaling pathway Smad proteins in the induction of inhibin B production in ovarian granulosa cells
    Jonas Bondestam
    Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki, P O Box 63 Haartmaninkatu 8, 00014, Helsinki, Finland
    Mol Cell Endocrinol 195:79-88. 2002
    ....
  33. ncbi Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells
    Liina Lonka
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland
    J Neurosci Res 76:862-71. 2004
    ..Consequently, there is no obvious genotype-phenotype correlation at the level of protein localization and thus mutations most likely directly affect functionally important domains of CLN8...
  34. pmc Autoproteolytic activation of human aspartylglucosaminidase
    Jani Saarela
    Department of Medical Genetics and National Public Health Institute, University of Helsinki, Haartmaninkatu 8, FIN 00290 Helsinki, Finland
    Biochem J 378:363-71. 2004
    ....
  35. pmc Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3
    Jouni Vesa
    Department of Human Genetics, University of California at Los Angeles School of Medicine, Gonda Neuroscience and Genetics Research Center, Los Angeles, California 90095 7088, USA
    Mol Biol Cell 13:2410-20. 2002
    ..Both intracellular targeting and posttranslational glycosylation of the polypeptides carrying human disease mutations were similar to wild-type CLN5...
  36. ncbi Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number
    Henna Tyynismaa
    Department of Neurology and Programme of Neurosciences, University of Helsinki, 00290 Helsinki, Finland
    Hum Mol Genet 13:3219-27. 2004
    ..These data demonstrate that Twinkle helicase is essential for mtDNA maintenance, and that it may be a key regulator of mtDNA copy number in mammals...