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Outi Kopra

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Mervi Kuronen; Anna-Elina Lehesjoki; Jonathan D Cooper; Anu Jalanko; Outi Kopra
Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice.
M Kuronen; Ulla Lahtinen; T Laitinen; Anna-Elina Lehesjoki; O Manninen; Pentti Somerharju; M Talvitie; I Zech; J D Cooper; M Eckhardt; O Gröhn; Martin Hermansson; Outi Kopra
Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.
Maria Kousi; Johannes R Lemke; Liisa Myllykangas; Aarno Palotie; Erik Riesch; Angela Schulz; Meral Topçu; Michael Alber; Fusun Alehan; Verneri Anttila; Stella Calafato; Sarenur Gökben; Eveliina Jakkula; Hannu Kalimo; Outi Kopra; Anna-Elina Lehesjoki
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

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All Publications

2012: Mervi Kuronen; Anna-Elina Lehesjoki; Jonathan D Cooper; Anu Jalanko; Outi Kopra
Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice.
Neurobiology of disease 2012;47(3):444-57.
2012: M Kuronen; Ulla Lahtinen; T Laitinen; Anna-Elina Lehesjoki; O Manninen; Pentti Somerharju; M Talvitie; I Zech; J D Cooper; M Eckhardt; O Gröhn; Martin Hermansson; Outi Kopra
Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.
Neuropathology and applied neurobiology 2012;38(5):471-86.
2012: Maria Kousi; Johannes R Lemke; Liisa Myllykangas; Aarno Palotie; Erik Riesch; Angela Schulz; Meral Topçu; Michael Alber; Fusun Alehan; Verneri Anttila; Stella Calafato; Sarenur Gökben; Eveliina Jakkula; Hannu Kalimo; Outi Kopra; Anna-Elina Lehesjoki
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
Journal of medical genetics 2012;49(6):391-9.
2012: Mia-Lisa Schmiedt; Carina von Schantz-Fant; Andrew Wong; Matti Jauhiainen; Outi Kopra; Mervi Kuronen; Tomas Blom; Tomas Blom; Jonathan D Cooper; Elina Ikonen; Anu Jalanko
Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism.
Neurobiology of disease 2012;46(1):19-29.
2009: Maria K Lehtinen; Saara Tegelberg; Hyman M Schipper; Haixiang Su; Hillel Zukor; Otto Manninen; Outi Kopra; Tarja Joensuu; Paula Hakala; Azad Bonni; Anna-Elina Lehesjoki
Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(18):5910-5.
2009: Carina von Schantz; Catherine Kielar; Stine N Hansen; Charlie C Pontikis; Noreen A Alexander; Outi Kopra; Anu Jalanko; Jonathan D Cooper
Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL.
Neurobiology of disease 2009;34(2):308-19.
2008: Kristiina Uusi-Rauva; Kaisu Luiro; Kimmo Tanhuanpää; Outi Kopra; Pablo Martín-Vasallo; Aija Kyttälä; Anu Jalanko
Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.
Experimental cell research 2008;314(15):2895-905.
2008: Anna-Kaisa Anttonen; Eija Siintola; Lisbeth Tranebjaerg; Nobue K Iwata; Emilia K Bijlsma; Hiroyuki Meguro; Yaeko Ichikawa; Jun Goto; Outi Kopra; Anna-Elina Lehesjoki
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
European journal of human genetics : EJHG 2008;16(8):961-9.
2008: Annina Lyly; Sanna K Marjavaara; Aija Kyttälä; Kristiina Uusi-Rauva; Kaisu Luiro; Outi Kopra; Laurent O Martinez; Kimmo Tanhuanpää; Nisse Kalkkinen; Anu Suomalainen; Matti Jauhiainen; Anu Jalanko
Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.
Human molecular genetics 2008;17(10):1406-17.
2008: Tarja Joensuu; Anna-Elina Lehesjoki; Outi Kopra
Molecular background of EPM1-Unverricht-Lundborg disease.
Epilepsia 2008;49(4):557-63.
2008: Carina von Schantz; Juha Saharinen; Outi Kopra; Jonathan D Cooper; Massimiliano Gentile; Iiris Hovatta; Leena Peltonen; Anu Jalanko
Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.
BMC genomics 2008;9():146.
2007: Laura Ahtiainen; Julia Kolikova; Aino-Liisa Mutka; Kaisu Luiro; Massimiliano Gentile; Elina Ikonen; Leonard Khiroug; Anu Jalanko; Outi Kopra
Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction.
Neurobiology of disease 2007;28(1):52-64.
2007: Anna Kiialainen; Ville Veckman; Juha Saharinen; Juha Paloneva; Massimiliano Gentile; Panu Hakola; Dimitri Hemelsoet; Basil Ridha; Outi Kopra; Ilkka Julkunen; Leena Peltonen
Transcript profiles of dendritic cells of PLOSL patients link demyelinating CNS disorders with abnormalities in pathways of actin bundling and immune response.
Journal of molecular medicine (Berlin, Germany) 2007;85(9):971-83.
2007: Annina Lyly; Carina von Schantz; Tarja Salonen; Outi Kopra; Janna Saarela; Matti Jauhiainen; Aija Kyttälä; Anu Jalanko
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.
BMC cell biology 2007;8():22.
2006: Kaisu Luiro; Outi Kopra; Tomas Blom; Massimiliano Gentile; Hannah M Mitchison; Iiris Hovatta; Kid Törnquist; Anu Jalanko
Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.
Journal of neuroscience research 2006;84(5):1124-38.
2006: Laura Ahtiainen; Kaisu Luiro; Maria Kauppi; Jaana Tyynelä; Outi Kopra; Anu Jalanko
Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing.
Experimental cell research 2006;312(9):1540-53.
2006: Mira Kyttälä; Jonna Tallila; Riitta Salonen; Outi Kopra; Nicolai Kohlschmidt; Paulina Paavola-Sakki; Leena Peltonen; Marjo Kestilä
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
Nature genetics 2006;38(2):155-7.
2005: Anna-Kaisa Anttonen; Ibrahim Mahjneh; Riikka H Hämäläinen; Clotilde Lagier-Tourenne; Outi Kopra; Laura Waris; Mikko Anttonen; Tarja Joensuu; Hannu Kalimo; Anders Paetau; Lisbeth Tranebjaerg; Denys Chaigne; Michel Koenig; Orvar Eeg-Olofsson; Bjarne Udd; Mirja Somer; Hannu Somer; Anna-Elina Lehesjoki
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Nature genetics 2005;37(12):1309-11.
2005: Eija Siintola; Meral Topcu; Alfried Kohlschuetter; Outi Kopra; Tarja Joensuu; Anna-Kaisa Anttonen; Anna-Elina Lehesjoki
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
Clinical genetics 2005;68(2):167-73.
2005: Lisa Mee; Heli Honkala; Outi Kopra; Jouni Vesa; Saara Finnilä; Ilona Visapää; Tzu-Kang Sang; George R Jackson; Riitta Salonen; Marjo Kestilä; Leena Peltonen
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
Human molecular genetics 2005;14(11):1475-88.
2005: Anna Kiialainen; Karine Hovanes; Juha Paloneva; Outi Kopra; Leena Peltonen
Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS.
Neurobiology of disease 2005;18(2):314-22.
2005: Anu Jalanko; Jouni Vesa; Tuula Manninen; Carina von Schantz; Helena Minye; Anna-Liisa Fabritius; Tarja Salonen; Juhani Rapola; Massimiliano Gentile; Outi Kopra; Leena Peltonen
Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.
Neurobiology of disease 2005;18(1):226-41.
2005: Liina Lonka; Anna-Mari Aalto; Outi Kopra; Mervi Kuronen; Zaal Kokaia; Mart Saarma; Anna-Elina Lehesjoki
The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy.
BMC neuroscience 2005;6():27.
2004: Outi Kopra; Jouni Vesa; Carina von Schantz; Tuula Manninen; Helena Minye; Anna-Liisa Fabritius; Juhani Rapola; Otto P van Diggelen; Janna Saarela; Anu Jalanko; Leena Peltonen
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
Human molecular genetics 2004;13(23):2893-906.
2004: Aino-Liisa Mutka; Sari Lusa / Löytökorpi; Matts D Linder; Eija Jokitalo; Outi Kopra; Matti Jauhiainen; Elina Ikonen
Secretion of sterols and the NPC2 protein from primary astrocytes.
The Journal of biological chemistry 2004;279(47):48654-62.
2004: Liina Lonka; Tarja Salonen; Eija Siintola; Outi Kopra; Anna-Elina Lehesjoki; Anu Jalanko
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
Journal of neuroscience research 2004;76(6):862-71.
2004: Ville Holmberg; Anu Jalanko; Juha Isosomppi; Anna-Liisa Fabritius; Leena Peltonen; Outi Kopra
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain.
Neurobiology of disease 2004;16(1):29-40.
2004: Nina Aula; Outi Kopra; Anu Jalanko; Leena Peltonen
Sialin expression in the CNS implicates extralysosomal function in neurons.
Neurobiology of disease 2004;15(2):251-61.
2003: H Annika Siitonen; Outi Kopra; Helena Kääriäinen; Henna Haravuori; Robin M Winter; Anna-Marja Säämänen; Leena Peltonen; Marjo Kestilä
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
Human molecular genetics 2003;12(21):2837-44.
2003: Laura Ahtiainen; Otto P van Diggelen; Anu Jalanko; Outi Kopra
Palmitoyl protein thioesterase 1 is targeted to the axons in neurons.
The Journal of comparative neurology 2003;455(3):368-77.
2001: Kaisu Luiro; Outi Kopra; M Lehtovirta; Anu Jalanko
CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease.
Human molecular genetics 2001;10(19):2123-31.
2001: Outi Kopra; O Heinonen-Kopra; Jouni Vesa; Anu Jalanko
Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.
Molecular and cellular neurosciences 2001;18(2):131-40.
2001: Sara E Mole; NA Zhong; A Sarpong; W P Logan; S Hofmann; W Yi; PF Franken; Otto P van Diggelen; Martijn H Breuning; Dorota Moroziewicz; Weina Ju; Outi Kopra; V Holmberg; Irma Järvelä; Peter E M Taschner
New mutations in the neuronal ceroid lipofuscinosis genes.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2001;5 Suppl A():7-10.
2001: M Lehtovirta; Aija Kyttälä; E L Eskelinen; M Hess; Outi Kopra; Anu Jalanko
Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL).
Human molecular genetics 2001;10(1):69-75.
2000: Outi Kopra; Tarja Salonen; Anu Jalanko; Leena Peltonen; A Copp
CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain.
The Journal of comparative neurology 2000;426(3):406-12.
2000: Outi Kopra; Aija Kyttälä; E Lehmus; Tiina Paunio; Leena Peltonen; Anu Jalanko
Expression of palmitoyl protein thioesterase in neurons.
Molecular genetics and metabolism 2000;69(2):123-9.
1999: Juha Isosomppi; Outi Kopra; Jukka O Hiltunen; Nicholas D E Greene; Jouni Vesa; A Uusitalo; Hannah M Mitchison; Mart Saarma; Anu Jalanko; Leena Peltonen
Developmental expression of palmitoyl protein thioesterase in normal mice.
Brain research. Developmental brain research 1999;118(1-2):1-11.
1999: A Uusitalo; K Tenhunen; Outi Kopra; Jukka O Hiltunen; M Saarma; Matti Haltia; Anu Jalanko; Leena Peltonen
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.
Molecular genetics and metabolism 1999;67(4):294-307.
1998: M Peltola; Aija Kyttälä; Outi Kopra; Juhani Rapola; Tiina Paunio; F Revah; Leena Peltonen; Anu Jalanko
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.
Gene therapy 1998;5(10):1314-21.
1998: Aija Kyttälä; Outi Kopra; Leena Peltonen; Anu Jalanko
Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1998;18(19):7750-6.
1998: Outi Kopra; E Hellsten; N Horelli-Kuitunen; Leena Peltonen; Anu Jalanko
Mouse palmitoyl protein thioesterase: gene structure and expression of cDNA.
Genome research 1998;8(7):724-30.
1998: Tiina Paunio; Hannele Kangas; Outi Kopra; M H Buc-Caron; jean-jacques robert; S Kaasinen; Ilkka Julkunen; J Mallet; Leena Peltonen
Cells of the neuronal lineage play a major role in the generation of amyloid precursor fragments in gelsolin-related amyloidosis.
The Journal of biological chemistry 1998;273(26):16319-24.
1997: Tuula Pirttilä; Hilkka Soininen; Pankaj D Mehta; Outi Kopra; T Lehtimäki; Nenad Bogdanovic; L Paljärvi; K S Kim; O Kosunen; Bengt Winblad; PJ Riekkinen; Henryk M Wisniewski
Apolipoprotein E genotype and amyloid load in Alzheimer disease and control brains.
Neurobiology of aging 1997;18(1):121-7.
1996: Tuula Pirttilä; Hilkka Soininen; Outi Kopra; T Lehtimäki; Nenad Bogdanovic; Leo Paljärvi; O Kosunen; Bengt Winblad; PJ Riekkinen; Henryk M Wisniewski; Pankaj D Mehta
Apolipoprotein E (apoE) levels in brains from Alzheimer disease patients and controls.
Brain research 1996;722(1-2):71-7.
1996: Seppo Helisalmi; K Linnaranta; Maarit Lehtovirta; Arto Mannermaa; Outi Kopra; Markku Ryynänen; PJ Riekkinen; Hilkka Soininen
Apolipoprotein E polymorphism in patients with different neurodegenerative disorders.
Neuroscience letters 1996;205(1):61-4.
1996: Tuula Pirttilä; Pankaj D Mehta; Hilkka Soininen; K S Kim; Outi Kopra; Leo Paljärvi; O Kosunen; PJ Riekkinen; Henryk M Wisniewski
Cerebrospinal fluid concentrations of soluble amyloid beta-protein and apolipoprotein E in patients with Alzheimer's disease: correlations with amyloid load in the brain.
Archives of neurology 1996;53(2):189-93.
1996: O Kosunen; Hilkka Soininen; Leo Paljärvi; Outi Kopra; S Talasniemi; PJ Riekkinen
Diagnostic accuracy of Alzheimer's disease: a neuropathological study.
Acta neuropathologica 1996;91(2):185-93.
1995: Hilkka Soininen; Maarit Lehtovirta; Seppo Helisalmi; K Linnaranta; Outi Kopra; PJ Riekkinen
Increased acetylcholinesterase activity in the CSF of Alzheimer patients carrying apolipoprotein epsilon4 allele.
Neuroreport 1995;6(18):2518-20.
1995: Outi Kopra; Maarit Lehtovirta; Hilkka Soininen; Seppo Helisalmi; Arto Mannermaa; H Sorvari; O Kosunen; Leo Paljärvi; Markku Ryynänen; PJ Riekkinen
Alzheimer pathology of patients carrying apolipoprotein E epsilon 4 allele.
Neurobiology of aging 1995;16(4):505-13.
1995: O Kosunen; S Talasniemi; Maarit Lehtovirta; Outi Kopra; Seppo Helisalmi; Arto Mannermaa; Leo Paljärvi; Markku Ryynänen; PJ Riekkinen; Hilkka Soininen
Relation of coronary atherosclerosis and apolipoprotein E genotypes in Alzheimer patients.
Stroke; a journal of cerebral circulation 1995;26(5):743-8.
1995: Outi Kopra; Hilkka Soininen; H Sorvari; O Kosunen; Leo Paljärvi; Esa H Koivisto; PJ Riekkinen
Loss of synaptophysin-like immunoreactivity in the hippocampal formation is an early phenomenon in Alzheimer's disease.
Neuroscience 1995;64(2):375-84.
1994: Outi Kopra; Hilkka Soininen; Stina Syrjänen; H Neittaanmäki; Leo Paljärvi; O Kosunen; Kari Syrjänen; PJ Riekkinen
beta-Amyloid protein immunoreactivity in skin is not a reliable marker of Alzheimer's disease. An autopsy-controlled study.
Archives of neurology 1994;51(8):799-804.
1994: Outi Kopra; K Kurvinen; Hilkka Soininen; H Koponen; Stina Syrjänen; PJ Riekkinen
Testing for mutations in exon 17 of the beta-amyloid precursor protein gene in Finnish Alzheimer patients and normal subjects.
Journal of neural transmission. Parkinson's disease and dementia section 1994;7(3):211-5.
1993: Outi Kopra; Stina Syrjänen; Hilkka Soininen; S Talasniemi; M Kaski; R Mäntyjärvi; Kari Syrjänen; PJ Riekkinen
Circulating immune complexes in sera from patients with Alzheimer's disease, multi-infarct dementia and Down's syndrome.
Neuroscience letters 1993;149(1):67-70.
1993: Hilkka Soininen; Outi Kopra; Merja Hallikainen; Tuomo Hänninen; Keijo Koivisto; Stina Syrjänen; S Talasniemi; PJ Riekkinen
Circulating immune complexes in sera from patients with Alzheimer's disease and subjects with age-associated memory impairment.
Journal of neural transmission. Parkinson's disease and dementia section 1993;6(3):179-88.
1992: Hilkka Soininen; Stina Syrjänen; Outi Kopra; H Neittaanmäki; Riitta Miettinen; Leo Paljärvi; Kari Syrjänen; Konrad Beyreuther; PJ Riekkinen
Amyloid beta-protein deposition in skin of patients with dementia.
Lancet 1992;339(8787):245.