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10 p, 1.5 MB |
Cerebrospinal fluid profile of NPTX2 supports role of Alzheimer's disease-related inhibitory circuit dysfunction in adults with down syndrome
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Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ;
Xiao, M.F. (Johns Hopkins University School of Medicine) ;
Xu, D. (Johns Hopkins University School of Medicine) ;
Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ;
Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Benejam, Bessy (Institut d'Investigació Biomèdica Sant Pau) ;
Videla Toro, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Fernández, S. (Fundació Catalana Síndrome de Down) ;
Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Núñez-Llaves, Raúl (Institut d'Investigació Biomèdica Sant Pau) ;
Montal, Victor (Institut d'Investigació Biomèdica Sant Pau) ;
Vilaplana, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Worley, P.F. (Johns Hopkins University School of Medicine) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Alzheimer's disease (AD) is the major cause of death in adults with Down syndrome (DS). There is an urgent need for objective markers of AD in the DS population to improve early diagnosis and monitor disease progression. [...]
2020 -  10.1186/s13024-020-00398-0
Molecular neurodegeneration, Vol. 15 Núm. 1 (17 2020) , p. 1-10
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2.
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18 p, 6.7 MB |
Identification of sixteen novel candidate genes for late onset Parkinson's disease
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Gialluisi, Alessandro (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Reccia, Mafalda Giovanna (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Modugno, Nicola (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Nutile, Teresa (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Lombardi, Alessia (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Di Giovannantonio, Luca Giovanni (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Pietracupa, Sara (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Ruggiero, Daniela (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Scala, Simona (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Gambardella, Stefano (Department of Biomolecular Science. University of Urbino Carlo Bò) ;
Noyce, Alastair J. ;
Kaiyrzhanov, Rauan ;
Middlehurst, Ben ;
Kia, Demis A. ;
Tan, Manuela ;
Houlden, Henry ;
Morris, Huw R. ;
Plun-Favreau, Helen ;
Holmans, Peter ;
Hardy, John ;
Trabzuni, Daniah ;
Quinn, John ;
Bubb, Vivien ;
Mok, Kin Y. ;
Kinghorn, Kerri J. ;
Billingsley, Kimberley ;
Wood, Nicholas W.. ;
Lewis, Patrick ;
Schreglmann, Sebastian ;
Lovering, Rruth ;
R'Bibo, Lea ;
Manzoni, Claudia ;
Rizig, Mie ;
Ryten, Mina ;
Guelfi, Sebastian ;
Escott-Price, Valentina ;
Chelban, Viorica ;
Foltynie, Thomas ;
Williams, Nigel ;
Morrison, Karen E. ;
Clarke, Carl ;
Brice, Alexis ;
Danjou, Fabrice ;
Lesage, Suzanne ;
Corvol, Jean-Christophe ;
Martinez Rande, Maria (INSERM UMR 1220) ;
Schulte, Claudia ;
Brockmann, Kathrin ;
Simón-Sánchez, Javier ;
Heutink, Peter ;
Rizzu, Patrizia ;
Sharma, Manu ;
Gasser, Thomas ;
Cookson, Mark R. ;
Bandres-Ciga, Sara ;
Blauwendraat, Cornelis ;
Craig, David W. ;
Narendra, Derek ;
Faghri, Faraz ;
Gibbs, J.Raphael ;
Hernandez, Dena G. ;
Van Keuren-Jensen, Kendall ;
Shulman, Joshua M. ;
Iwaki, Hirotaka ;
Leonard, Hampton L. ;
Nalls, Mike A. ;
Robak, Laurie ;
Bras, Jose ;
Guerreiro, Rita ;
Lubbe, Steven ;
Finkbeiner, Steven ;
Mencacci, Niccolo E. ;
Lungu, Codrin ;
Singleton, Andrew B. ;
Scholz, Sonja ;
Reed, Xylena ;
Alcalay, Roy N. ;
Gan-Or, Zin ;
Rouleau, Guy A. ;
Krohn, Lynne ;
van Hilten, Jacobus J. ;
Marinus, Johan ;
Adarmes-Gómez, A.D ;
Aguilar Barberà, Miquel ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria ;
Barrero, Francisco Javier ;
Bergareche Yarza, Jesús Alberto ;
Bernal-Bernal, Inmaculada ;
Blázquez Estrada, Marta ;
Bonilla-Toribio, Marta ;
Botía, Juan A. ;
Boungiorno, María Teresa ;
Buiza-Rueda, Dolores ;
Carrillo, Fátima ;
Carrión-Claro, M ;
Cerdan, Debora ;
Clarimón, Jordi ;
Compta, Yaroslau ;
Diez-Fairen, Monica ;
Dols Icardo, Oriol ;
Duarte, Jacinto ;
Duran, Raquel ;
Escamilla Sevilla, Francisco ;
Ezquerra, Mario ;
Feliz, Cici ;
Fernández, Manel ;
Fernández-Santiago, Rubén ;
Garcia, Ciara ;
García-Ruiz, Pedro ;
Gómez-Garre, Pilar ;
Gomez Heredia, Maria Jose ;
Gonzalez-Aramburu, Isabel ;
Gorostidi Pagola, Ana ;
Hoenicka, Janet ;
Infante, Jon ;
Jesús, Silvia ;
Jiménez-Escrig, Adriano (Hospital General de Segovia) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, Miguel A. ;
Lopez-Sendon, Jose Luis ;
López de Munain Arregui, Adolfo ;
Macias, Daniel ;
Martínez Torres, Irene ;
Marín, Juan ;
Marti, Maria Jose ;
Martínez-Castrillo, Juan Carlos ;
Méndez-del-Barrio, Carlota ;
Menéndez González, Manuel ;
Mata, Marina ;
Mínguez, Adolfo ;
Mir, Pablo ;
Mondragon Rezola, Elisabet ;
Muñoz, Esteban ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Pastor, Pau ;
Perez Errazquin, Francisco ;
Periñán-Tocino, Teresa ;
Ruiz-Martínez, Javier ;
Ruz, Clara ;
Sanchez Rodriguez, Antonio ;
Sierra, María ;
Suarez-Sanmartin, Esther ;
Tabernero, Cesar ;
Tartari, Juan Pablo ;
Tejera-Parrado, Cristina ;
Tolosa, Eduard ;
Valldeoriola, Francesc ;
Vargas-González, Laura ;
Vela, Lydia ;
Vives, Francisco ;
Zimprich, Alexander ;
Pihlstrom, Lasse ;
Toft, Mathias ;
Koks, Sulev ;
Taba, Pille ;
Hassin-Baer, Sharon ;
Majamaa, Kari ;
Siitonen, Ari ;
Okubadejo, Njideka U. ;
Ojo, Oluwadamilola O. ;
Kaiyrzhanov, Rauan ;
Shashkin, Chingiz ;
Zharkynbekova, Nazira ;
Akhmetzhanov, Vadim ;
Aitkulova, Akbota ;
Zholdybayeva, Elena ;
Zharmukhanov, Zharkyn ;
Kaishybayeva, Gulnaz ;
Karimova, Altynay ;
Sadykova, Dinara ;
Iacoviello, Licia (University of Insubria (Itàlia)) ;
Gianfrancesco, F. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Acampora, D. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
D'Esposito, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Simeone, A. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Ciullo, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Esposito, T. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso")
Background: Parkinson's disease (PD) is a neurodegenerative movement disorder affecting 1-5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. [...]
2021 - 10.1186/s13024-021-00455-2
Molecular neurodegeneration, Vol. 16 Núm. 1 (december 2021) , p. 35
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16 p, 2.1 MB |
Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer's disease
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Visser, Pieter Jelle (Karolinska Institutet (Estocolm, Suècia)) ;
Reus, Lianne M. (Vrije Universiteit Amsterdam) ;
Gobom, Johan (Sahlgrenska Academy at the University of Gothenburg) ;
Jansen, Iris E (VU University) ;
Dicks, Ellen (Vrije Universiteit Amsterdam) ;
van der Lee, Sven J. (Vrije Universiteit Amsterdam) ;
Tsolaki, Magda (AHEPA University Hospital (Grècia)) ;
Verhey, Frans R. J. (Maastricht University) ;
Popp, Julius (University Hospital Zurich (Suïssa)) ;
Martinez-Lage, Pablo (Fundación CITA-Alzhéimer Fundazioa) ;
Vandenberghe, Rik (KU Leuven) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Molinuevo, José Luis (Hospital Clínic i Provincial de Barcelona) ;
Engelborghs, Sebastiaan (Vrije Universiteit Brussel) ;
Freund-Levi, Yvonne (Örebro University) ;
Froelich, Lutz (University of Heidelberg) ;
Sleegers, Kristel (University of Antwerp) ;
Dobricic, Valerija (University of Lübeck) ;
Lovestone, Simon (High Wycombe, UK) ;
Streffer, Johannes (AC Immune SA) ;
Vos, Stephanie J. B. (Maastricht University) ;
Bos, Isabelle (Maastricht University) ;
Smit, August B. (Vrije Universiteit Amsterdam) ;
Blennow, Kaj (Sahlgrenska Academy at the University of Gothenburg) ;
Scheltens, Philip (Vrije Universiteit Amsterdam) ;
Teunissen, Charlotte E. (Amsterdam University Medical Centers (AUMC)) ;
Bertram, Lars (University of Oslo) ;
Zetterberg, Henrik (Dementia Research Institute at UCL) ;
Tijms, Betty M. (Vrije Universiteit Amsterdam) ;
Universitat Autònoma de Barcelona
Increased total tau (t-tau) in cerebrospinal fluid (CSF) is a key characteristic of Alzheimer's disease (AD) and is considered to result from neurodegeneration. T-tau levels, however, can be increased in very early disease stages, when neurodegeneration is limited, and can be normal in advanced disease stages. [...]
2022 - 10.1186/s13024-022-00521-3
Molecular neurodegeneration, Vol. 17 (march 2022)
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4.
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12 p, 3.6 MB |
Multimarker synaptic protein cerebrospinal fluid panels reflect TDP-43 pathology and cognitive performance in a pathological cohort of frontotemporal lobar degeneration
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Cervantes González, Alba (Institut d'Investigació Biomèdica Sant Pau) ;
Irwin, David J. (University of Pennsylvania) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
McMillan, Corey T. (University of Pennsylvania) ;
Chen-Plotkin, Alice (University of Pennsylvania) ;
Wolk, David (University of Pennsylvania) ;
Sirisi Dolcet, Sonia (Institut d'Investigació Biomèdica Sant Pau) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Querol-Vilaseca, Marta (Institut d'Investigació Biomèdica Sant Pau) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Santos-Santos, Miguel Angel (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Lee, Edward B. (University of Pennsylvania) ;
Trojanowski, John Q.. (University of Pennsylvania) ;
Grossman, Murray (University of Pennsylvania) ;
Lleó, Alberto (Memory Unit and Biomedical Research Institute) ;
Belbin, Olivia (Memory Unit and Biomedical Research Institute) ;
Universitat Autònoma de Barcelona
Synapse degeneration is an early event in pathological frontotemporal lobar degeneration (FTLD). Consequently, a surrogate marker of synapse loss could be used to monitor early pathologic changes in patients with underlying FTLD. [...]
2022 - 10.1186/s13024-022-00534-y
Molecular neurodegeneration, Vol. 17 (april 2022)
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1 p, 301.7 KB |
Erratum to : Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility
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Sevlever, Daniel (Mayo Clinic College of Medicine, Jacksonville) ;
Zou, Fanggeng (Cincinnati Children's Hospital Medical Center) ;
Ma, Li (Mayo Clinic College of Medicine, Jacksonville) ;
Carrasquillo, Sebastian (Mayo Clinic College of Medicine, Jacksonville) ;
Crump, Michael G. (Mayo Clinic College of Medicine, Jacksonville) ;
Culley, Oliver J. (Mayo Clinic College of Medicine, Jacksonville) ;
Hunter, Talisha A. (Mayo Clinic College of Medicine, Jacksonville) ;
Bisceglio, Gina D. (Mayo Clinic College of Medicine, Jacksonville) ;
Younkin, Linda (Mayo Clinic College of Medicine, Jacksonville) ;
Allen, Mariet (Mayo Clinic College of Medicine, Jacksonville) ;
Carrasquillo, Minerva M. (Mayo Clinic College of Medicine, Jacksonville) ;
Sando, Sigrid B. (Norwegian University of Science and Technology) ;
Aasly, Jan O. (Norwegian University of Science and Technology) ;
Dickson, Dennis W. (Mayo Clinic College of Medicine, Jacksonville) ;
Graff-Radford, Neill R. (Mayo Clinic College of Medicine, Jacksonville) ;
Petersen, Ronald C. (Mayo Clinic College of Medicine, Rochester) ;
Deák, Ferenc (University of Oklahoma HSC, Oklahoma City) ;
Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
2015 - 10.1186/s13024-015-0047-2
Molecular neurodegeneration, Vol. 10 (september 2015)
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23 p, 4.3 MB |
Sex-dependent calcium hyperactivity due to lysosomal-related dysfunction in astrocytes from APOE4 versus APOE3 gene targeted replacement mice
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Larramona Arcas, Raquel (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
González-Arias, Candela (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Perea, Gertrudis (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Gutiérrez Pérez, Antonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Vitorica, Javier (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
García-Barrera, Tamara (Universidad de Huelva. Departamento de Química) ;
Gómez-Ariza, José Luis (Universidad de Huelva. Departamento de Química) ;
Pascua-Maestro, Raquel (Universidad de Valladolid. Instituto de Biología y Genética Molecular) ;
Ganfornina, María Dolores (Universidad de Valladolid. Instituto de Biología y Genética Molecular) ;
Kara, Eleanna (Present Address: Institute of Neuropathology, University Hospital of Zurich) ;
Hudry, Eloise (Alzheimer's Disease Research Laboratory, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Harvard Medical School) ;
Martinez-Vicente, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Vila Bover, Miquel (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Galea, Elena (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Masgrau Juanola, Roser (Universitat Autònoma de Barcelona. Institut de Neurociències)
The apolipoprotein E (APOE) gene exists in three isoforms in humans: APOE2, APOE3 and APOE4. APOE4 causes structural and functional alterations in normal brains, and is the strongest genetic risk factor of the sporadic form of Alzheimer's disease (LOAD). [...]
2020 - 10.1186/s13024-020-00382-8
Molecular neurodegeneration, Vol. 15 (june 2020)
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14 p, 1.2 MB |
Early increase of CSF sTREM2 in Alzheimer's disease is associated with tau related-neurodegeneration but not with amyloid-β pathology
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Suárez Calvet, Marc (Ludwig-Maximilians-Universität München) ;
Morenas-Rodríguez, Estrella (Institut d'Investigació Biomèdica Sant Pau) ;
Kleinberger, Gernot (Ludwig-Maximilians-Universität München) ;
Schlepckow, Kai (German Center for Neurodegenerative Diseases (DZNE) Munich) ;
Araque Caballero, Miguel Ángel (Ludwig-Maximilians-Universität München) ;
Franzmeier, Nicolai (Ludwig-Maximilians-Universität München) ;
Capell, Anja (Ludwig-Maximilians-Universität München) ;
Fellerer, Katrin (Ludwig-Maximilians-Universität München) ;
Nuscher, Brigitte (Ludwig-Maximilians-Universität München) ;
Eren, Erden (Ludwig-Maximilians-Universität München) ;
Levin, Johannes (German Center for Neurodegenerative Diseases (DZNE) Munich) ;
Deming, Yuetiva (Washington University School of Medicine) ;
Piccio, Laura (Washington University School of Medicine) ;
Karch, Celeste M. (Washington University School of Medicine) ;
Cruchaga, Carlos (Washington University School of Medicine) ;
Shaw, Leslie M. (University of Pennsylvania) ;
Trojanowski, John Q.. (University of Pennsylvania) ;
Weiner, Michael (University of California at San Francisco) ;
Ewers, Michael (Ludwig-Maximilians-Universität München) ;
Haass, Christian (Ludwig-Maximilians-Universität München) ;
Universitat Autònoma de Barcelona
TREM2 is a transmembrane receptor that is predominantly expressed by microglia in the central nervous system. Rare variants in the TREM2 gene increase the risk for late-onset Alzheimer's disease (AD). [...]
2019 - 10.1186/s13024-018-0301-5
Molecular neurodegeneration, Vol. 14 (january 2019)
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12 p, 841.2 KB |
Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility
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Sevlever, Daniel (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Zou, Fanggeng (Cincinnati Children's Hospital Medical Center) ;
Ma, Li (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Carrasquillo, Sebastian (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Crump, Michael G. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Culley, Oliver J. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Hunter, Talisha A. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Bisceglio, Gina D. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Younkin, Linda (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Allen, Mariet (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Carrasquillo, Minerva M. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Sando, Sigrid B. (Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway) ;
Aasly, Jan O. (Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway) ;
Dickson, Dennis W. (Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville) ;
Graff-Radford, Neill R. (Department of Neurology, Mayo Clinic College of Medicine, Jacksonville) ;
Petersen, Ronald C. (Department of Neurology and the Mayo Alzheimer Disease Research Center, Mayo Clinic College of Medicine, Rochester, Minnesota) ;
Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ;
Institut d'Investigació Biomèdica Sant Pau
Ajuts: Programa Miguel Servet de l'Instituto de Salud Carlos III i FEDER (European Funds for Regional Development).
Alzheimer's disease is a neurodegenerative disorder in which extracellular deposition of β-amyloid (Aβ) oligomers causes synaptic injury resulting in early memory loss, altered homeostasis, accumulation of hyperphosphorylated tau and cell death. [...]
2015 - 10.1186/s13024-015-0015-x
Molecular neurodegeneration, Vol. 10 (april 2015)
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12 p, 1.1 MB |
Pleiotrophin over-expression rescues dopaminergic neurons in parkinsonian rats
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Taravini, Irene R. E. (Instituto de Investigaciones Farmacológicas (Buenos Aires, Argentina)) ;
Chertoff, Mariela (Fundación Instituto Leloir (Buenos Aires, Argentina)) ;
Cafferata, Eduardo G. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ;
Courty, José (Centre National de la Recherche Scientifique (França)) ;
Murer, Mario G. (Universidad de Buenos Aires. Departamento de Fisiología y Biofísica) ;
Pitossi, Fernando J. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ;
Gershanik, Oscar S. (Instituto de Investigaciones Farmacológicas (Buenos Aires, Argentina))
Background: Pleiotrophin is known to promote the survival and differentiation of dopaminergic neurons in vitro and is up-regulated in the substantia nigra of Parkinson's disease patients. To establish whether pleiotrophin has a trophic effect on nigrostriatal dopaminergic neurons in vivo, we injected a recombinant adenovirus expressing pleiotrophin in the substantia nigra of 6-hydroxydopamine lesioned rats. [...]
2011 - 10.1186/1750-1326-6-40
Molecular neurodegeneration, Vol. 6, N. 40 (June 2011) , p. 1-12
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