Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd: implications to delayed myelination and oligodendrocyte maturation
Kuronen, M., Hermansson, M., Manninen, O., Zech, I., Talvitie, M., Laitinen, T., Gröhn, O., Somerharju, P., Eckhardt, M., Cooper, J. D., Lehesjoki, A.-E., Lahtinen, U., Kopra, O.
Published in Neuropathology and applied neurobiology (01.08.2012)
Published in Neuropathology and applied neurobiology (01.08.2012)
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Journal Article
MKS1 , encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
Peltonen, Leena, Kyttälä, Mira, Tallila, Jonna, Salonen, Riitta, Kopra, Outi, Kohlschmidt, Nicolai, Paavola-Sakki, Paulina, Kestilä, Marjo
Published in Nature genetics (01.02.2006)
Published in Nature genetics (01.02.2006)
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Journal Article
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
Kopra, Outi, Udd, Bjarne, Kalimo, Hannu, Tranebjaerg, Lisbeth, Anttonen, Mikko, Eeg-Olofsson, Orvar, Joensuu, Tarja, Mahjneh, Ibrahim, Hämäläinen, Riikka H, Anttonen, Anna-Kaisa, Chaigne, Denys, Koenig, Michel, Lagier-Tourenne, Clotilde, Lehesjoki, Anna-Elina, Waris, Laura, Somer, Hannu, Paetau, Anders, Somer, Mirja
Published in Nature genetics (01.12.2005)
Published in Nature genetics (01.12.2005)
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Journal Article
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, Peltonen, Leena, Kestilä, Marjo
Published in Human molecular genetics (01.11.2003)
Published in Human molecular genetics (01.11.2003)
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Journal Article
Palmitoyl protein thioesterase 1 is targeted to the axons in neurons
Ahtiainen, Laura, Van Diggelen, Otto P., Jalanko, Anu, Kopra, Outi
Published in Journal of comparative neurology (1911) (13.01.2003)
Published in Journal of comparative neurology (1911) (13.01.2003)
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Journal Article
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
Kopra, Outi, Vesa, Jouni, von Schantz, Carina, Manninen, Tuula, Minye, Helena, Fabritius, Anna-Liisa, Rapola, Juhani, Diggelen, Otto P. van, Saarela, Janna, Jalanko, Anu, Peltonen, Leena
Published in Human molecular genetics (01.12.2004)
Published in Human molecular genetics (01.12.2004)
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Journal Article
Mice with Ppt1 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons
Jalanko, Anu, Vesa, Jouni, Manninen, Tuula, von Schantz, Carina, Minye, Helena, Fabritius, Anna-Liisa, Salonen, Tarja, Rapola, Juhani, Gentile, Massimiliano, Kopra, Outi, Peltonen, Leena
Published in Neurobiology of disease (01.02.2005)
Published in Neurobiology of disease (01.02.2005)
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Journal Article
Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8 mnd : implications to delayed myelination and oligodendrocyte maturation
Kuronen, M., Hermansson, M., Manninen, O., Zech, I., Talvitie, M., Laitinen, T., Gröhn, O., Somerharju, P., Eckhardt, M., Cooper, J. D., Lehesjoki, A.‐E., Lahtinen, U., Kopra, O.
Published in Neuropathology and applied neurobiology (01.08.2012)
Published in Neuropathology and applied neurobiology (01.08.2012)
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Journal Article
Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model CIn8mnd: implications to delayed myelination and oligodendrocyte maturation
KURONEN, M, HERMANSSON, M, LEHESJOKI, A.-E, LAHTINEN, U, KOPRA, O, MANNINEN, O, ZECH, I, TALVITIE, M, LAITINEN, T, GROHN, O, SOMERHARJU, P, ECKHARDT, M, COOPER, J. D
Published in Neuropathology and applied neurobiology (2012)
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Published in Neuropathology and applied neurobiology (2012)
Journal Article
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
Mee, Lisa, Honkala, Heli, Kopra, Outi, Vesa, Jouni, Finnilä, Saara, Visapää, Ilona, Sang, Tzu-Kang, Jackson, George R., Salonen, Riitta, Kestilä, Marjo, Peltonen, Leena
Published in Human molecular genetics (01.06.2005)
Published in Human molecular genetics (01.06.2005)
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Journal Article
Secretion of Sterols and the NPC2 Protein from Primary Astrocytes
Mutka, Aino-Liisa, Lusa, Sari, Linder, Matts D, Jokitalo, Eija, Kopra, Outi, Jauhiainen, Matti, Ikonen, Elina
Published in The Journal of biological chemistry (19.11.2004)
Published in The Journal of biological chemistry (19.11.2004)
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Journal Article
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain
Holmberg, Ville, Jalanko, Anu, Isosomppi, Juha, Fabritius, Anna-Liisa, Peltonen, Leena, Kopra, Outi
Published in Neurobiology of disease (01.06.2004)
Published in Neurobiology of disease (01.06.2004)
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Journal Article
Sialin expression in the CNS implicates extralysosomal function in neurons
Aula, Nina, Kopra, Outi, Jalanko, Anu, Peltonen, Leena
Published in Neurobiology of disease (01.03.2004)
Published in Neurobiology of disease (01.03.2004)
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Journal Article
Somatic Progenitor Cell Vulnerability to Mitochondrial DNA Mutagenesis Underlies Progeroid Phenotypes in Polg Mutator Mice
Ahlqvist, Kati J., Hämäläinen, Riikka H., Yatsuga, Shuichi, Uutela, Marko, Terzioglu, Mügen, Götz, Alexandra, Forsström, Saara, Salven, Petri, Angers-Loustau, Alexandre, Kopra, Outi H., Tyynismaa, Henna, Larsson, Nils-Göran, Wartiovaara, Kirmo, Prolla, Tomas, Trifunovic, Aleksandra, Suomalainen, Anu
Published in Cell metabolism (04.01.2012)
Published in Cell metabolism (04.01.2012)
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Journal Article
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells
Lonka, Liina, Salonen, Tarja, Siintola, Eija, Kopra, Outi, Lehesjoki, Anna-Elina, Jalanko, Anu
Published in Journal of neuroscience research (15.06.2004)
Published in Journal of neuroscience research (15.06.2004)
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Journal Article
The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy
Lonka, Liina, Aalto, Antti, Kopra, Outi, Kuronen, Mervi, Kokaia, Zaal, Saarma, Mart, Lehesjoki, Anna-Elina
Published in BMC neuroscience (13.04.2005)
Published in BMC neuroscience (13.04.2005)
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Journal Article
Neuronal Trafficking of Palmitoyl Protein Thioesterase Provides an Excellent Model to Study the Effects of Different Mutations Which Cause Infantile Neuronal Ceroid Lipofuscinocis
Salonen, Tarja, Heinonen-Kopra, Outi, Vesa, Jouni, Jalanko, Anu
Published in Molecular and cellular neuroscience (01.08.2001)
Published in Molecular and cellular neuroscience (01.08.2001)
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