Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Synaptic Changes in the Thalamocortical System of Cathepsin D-Deficient Mice: A Model of Human Congenital Neuronal Ceroid-Lipofuscinosis
Partanen, Sanna, Haapanen, Aleksi, Kielar, Catherine, Pontikis, Charles, Alexander, Noreen, Inkinen, Teija, Saftig, Paul, Gillingwater, Thomas H, Cooper, Jonathan D, Tyynelä, Jaana
Published in Journal of neuropathology and experimental neurology (01.01.2008)
Published in Journal of neuropathology and experimental neurology (01.01.2008)
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Journal Article
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)
Fritchie, Karen, Siintola, Eija, Armao, Diane, Lehesjoki, Anna-Elina, Marino, Thomas, Powell, Cynthia, Tennison, Michael, Booker, Jessica M., Koch, Sabine, Partanen, Sanna, Suzuki, Kinuko, Tyynelä, Jaana, Thorne, Leigh B.
Published in Acta neuropathologica (01.02.2009)
Published in Acta neuropathologica (01.02.2009)
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Journal Article
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
Kollmann, Katrin, Uusi-Rauva, Kristiina, Scifo, Enzo, Tyynelä, Jaana, Jalanko, Anu, Braulke, Thomas
Published in Biochimica et biophysica acta (01.11.2013)
Published in Biochimica et biophysica acta (01.11.2013)
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Correction to Drafting the CLN3 Protein Interactome in SH-SY5Y Human Neuroblastoma Cells: A Label-free Quantitative Proteomics Approach
Scifo, Enzo, Szwajda, Agnieszka, Dębski, Janusz, Uusi-Rauva, Kristiina, Kesti, Tapio, Dadlez, Michał, Gingras, Anne-Claude, Tyynelä, Jaana, Baumann, Marc H, Jalanko, Anu, Lalowski, Maciej
Published in Journal of proteome research (02.08.2013)
Published in Journal of proteome research (02.08.2013)
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Hippocampal Pathology in the Human Neuronal Ceroid-Lipofuscinoses: Distinct Patterns of Storage Deposition, Neurodegeneration and Glial Activation
Tyynelä, Jaana, Cooper, Jonathan D, Khan, M Nadeem, Shemilt, Stephen JA, Haltia, Matti
Published in Brain pathology (Zurich, Switzerland) (01.10.2004)
Published in Brain pathology (Zurich, Switzerland) (01.10.2004)
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Enhanced activation of bound plasminogen on Staphylococcus aureus by staphylokinase
Mölkänen, Tomi, Tyynelä, Jaana, Helin, Jari, Kalkkinen, Nisse, Kuusela, Pentti
Published in FEBS letters (24.04.2002)
Published in FEBS letters (24.04.2002)
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Synergistic effects of treating the spinal cord and brain in CLN1 disease
Shyng, Charles, Nelvagal, Hemanth R., Dearborn, Joshua T., Tyynelä, Jaana, Schmidt, Robert E., Sands, Mark S., Cooper, Jonathan D.
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
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Activation of Type IV Procollagenases by Human Tumor-associated Trypsin-2
Sorsa, Timo, Salo, Tuula, Koivunen, Erkki, Tyynelä, Jaana, Konttinen, Yrjö T., Bergmann, Ulrich, Tuuttila, Ari, Niemi, Elina, Teronen, Olli, Heikkilä, Pia, Tschesche, Harald, Leinonen, Jari, Osman, Sirpa, Stenman, Ulf-Håkan
Published in The Journal of biological chemistry (22.08.1997)
Published in The Journal of biological chemistry (22.08.1997)
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NCL disease mechanisms
Palmer, David N., Barry, Lucy A., Tyynelä, Jaana, Cooper, Jonathan D.
Published in Biochimica et biophysica acta (01.11.2013)
Published in Biochimica et biophysica acta (01.11.2013)
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Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo
Cullen, Valerie, Lindfors, Maria, Ng, Juliana, Paetau, Anders, Swinton, Erika, Kolodziej, Piotr, Boston, Heather, Saftig, Paul, Woulfe, John, Feany, Mel B, Myllykangas, Liisa, Schlossmacher, Michael G, Tyynelä, Jaana
Published in Molecular brain (09.02.2009)
Published in Molecular brain (09.02.2009)
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Characterization of the NF2 protein merlin and the ERM protein ezrin in human, rat, and mouse central nervous system
Grönholm, Mikaela, Teesalu, Tambet, Tyynelä, Jaana, Piltti, Katja, Böhling, Tom, Wartiovaara, Kirmo, Vaheri, Antti, Carpén, Olli
Published in Molecular and cellular neuroscience (01.04.2005)
Published in Molecular and cellular neuroscience (01.04.2005)
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Drafting the CLN3 Protein Interactome in SH-SY5Y Human Neuroblastoma Cells: A Label-free Quantitative Proteomics Approach
Scifo, Enzo, Szwajda, Agnieszka, Dębski, Janusz, Uusi-Rauva, Kristiina, Kesti, Tapio, Dadlez, Michał, Gingras, Anne-Claude, Tyynelä, Jaana, Baumann, Marc H, Jalanko, Anu, Lalowski, Maciej
Published in Journal of proteome research (03.05.2013)
Published in Journal of proteome research (03.05.2013)
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Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Siintola, Eija, Partanen, Sanna, Strömme, Petter, Haapanen, Aleksi, Haltia, Matti, Maehlen, Jan, Lehesjoki, Anna-Elina, Tyynelä, Jaana
Published in Brain (London, England : 1878) (01.06.2006)
Published in Brain (London, England : 1878) (01.06.2006)
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Journal Article
Lysosomal dysfunction promotes cleavage and neurotoxicity of tau in vivo
Khurana, Vikram, Elson-Schwab, Ilan, Fulga, Tudor A, Sharp, Katherine A, Loewen, Carin A, Mulkearns, Erin, Tyynelä, Jaana, Scherzer, Clemens R, Feany, Mel B
Published in PLoS genetics (01.07.2010)
Published in PLoS genetics (01.07.2010)
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Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells
Scifo, Enzo, Szwajda, Agnieszka, Soliymani, Rabah, Pezzini, Francesco, Bianchi, Marzia, Dapkunas, Arvydas, Dębski, Janusz, Uusi-Rauva, Kristiina, Dadlez, Michał, Gingras, Anne-Claude, Tyynelä, Jaana, Simonati, Alessandro, Jalanko, Anu, Baumann, Marc H., Lalowski, Maciej
Published in Journal of proteomics (18.06.2015)
Published in Journal of proteomics (18.06.2015)
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Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double knock-out mice
Blom, Tea, Schmiedt, Mia-Lisa, Wong, Andrew M., Kyttälä, Aija, Soronen, Jarkko, Jauhiainen, Matti, Tyynelä, Jaana, Cooper, Jonathan D., Jalanko, Anu
Published in Disease models & mechanisms (01.01.2012)
Published in Disease models & mechanisms (01.01.2012)
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Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation
Joensuu, Tarja, Tegelberg, Saara, Reinmaa, Eva, Segerstråle, Mikael, Hakala, Paula, Pehkonen, Heidi, Korpi, Esa R, Tyynelä, Jaana, Taira, Tomi, Hovatta, Iiris, Kopra, Outi, Lehesjoki, Anna-Elina
Published in PloS one (27.02.2014)
Published in PloS one (27.02.2014)
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Distinct Neuropathologic Phenotypes After Disrupting the Chloride Transport Proteins ClC-6 or ClC-7/Ostm1
Pressey, Sarah N.R, O'Donnell, Kieran J, Stauber, Tobias, Fuhrmann, Jens C, Tyynelä, Jaana, Jentsch, Thomas J, Cooper, Jonathan D
Published in Journal of neuropathology and experimental neurology (01.12.2010)
Published in Journal of neuropathology and experimental neurology (01.12.2010)
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