Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease

Autor: Jean-Philippe Brandel, Gabor G. Kovacs, Anna Ladogana, Stéphane Haïk, Simon Mead, Gianluigi Zanusso, Inga Zerr, Byron Caughey, Franc Llorens, Katsuya Satoh, Maurizio Pocchiari, Michael D. Geschwind, Steven J. Collins, Peter Hermann, Alison Green, Piero Parchi, Suvankar Pal, Noriyuki Nishida, Brian S. Appleby

Publikováno v: The lancet / Neurology 20(3), 235-246 (2021). doi:10.1016/S1474-4422(20)30477-4
Hermann, P, Appleby, B, Brandel, J, Caughey, B, Collins, S, Geschwind, M D, Green, A, Haïk, S, Kovacs, G G, Ladogana, A, Llorens, F, Mead, S, Nishida, N, Pal, S, Parchi, P, Pocchiari, M, Satoh, K, Zanusso, G & Zerr, I 2021, ' Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease ', The Lancet Neurology, vol. 20, no. 3, pp. 235-246 . https://doi.org/10.1016/S1474-4422(20)30477-4
Lancet Neurol

Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal and potentially transmissible neurodegenerative disease caused by misfolded prion proteins (PrP(Sc)). To date, effective therapeutics are not available and accurate diagnosis can be challenging. Cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a87524bd7f22e1aa784687a22f110d16
https://doi.org/10.1016/s1474-4422(20)30477-4

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

Autor: Gabor G. Kovacs, Stephanie A. Booth, Sebastian Brandner, Penny Norsworthy, Anna Ladogana, Akin Nihat, Herbert Budka, Saima Zafar, Helen Speedy, Antonio Salas, Parvin Ahmed, Holger Hummerich, Gerard H. Jansen, Tze How Mok, Michael D. Geschwind, Beata Sikorska, Maurizio Pocchiari, Christiane Stehmann, Sabina Capellari, Jean-Louis Laplanche, Sven J. van der Lee, Emma Jones, Jean-Charles Lambert, Olga Calero, Pierluigi Gambetti, Ewa Golanska, Serena Aneli, Richard Knight, Giuseppe Matullo, Pawel P. Liberski, Athanasios Dimitriadis, Jerome Whitfield, Hata Karamujić-Čomić, Federico Martinón-Torres, Emmanuelle Viré, Jiri G. Safar, Tracy Campbell, Pascual Sánchez-Juan, Katie Glisic, Anna Bartoletti-Stella, Carla A. Ibrahim-Verbaas, Adriano Aguzzi, Anna Poleggi, Aili Golubjatnikov, Karl Frontzek, Jean Phillipe Brandel, Phillipe Amouyel, Parmjit S. Jat, Zane Jaunmuktane, Simon Mead, Steven J. Collins, Inga Zerr, Liam Quinn, Piero Parchi, Janis Blevins, Elodie Bouaziz-Amar, Brian S. Appleby, Shannon Sarros, Jacqueline M. Linehan, Miguel Calero, Michael B. Coulthart, Stéphane Haïk, John Collinge, James Uphill, Cornelia M. van Duijn

Publikováno v: The lancet / Neurology 19(10), 840-848 (2020). doi:10.1016/S1474-4422(20)30273-8
Lancet Neurol 2020; 19: 840?48
UCrea Repositorio Abierto de la Universidad de Cantabria
instname
Lancet Neurology, 19(10), 840-848. Lancet Publishing Group
The Lancet Neurology, 19(10), 840-848. Lancet Publishing Group
Jones, E, Hummerich, H, Viré, E, Uphill, J, Dimitriadis, A, Speedy, H, Campbell, T, Norsworthy, P, Quinn, L, Whitfield, J, Linehan, J, Jaunmuktane, Z, Brandner, S, Jat, P, Nihat, A, How Mok, T, Ahmed, P, Collins, S, Stehmann, C, Sarros, S, Kovacs, G G, Geschwind, M D, Golubjatnikov, A, Frontzek, K, Budka, H, Aguzzi, A, Karamujić-Čomić, H, van der Lee, S J, Ibrahim-Verbaas, C A, van Duijn, C M, Sikorska, B, Golanska, E, Liberski, P P, Calero, M, Calero, O, Sanchez-Juan, P, Salas, A, Martinón-Torres, F, Bouaziz-Amar, E, Haïk, S, Laplanche, J-L, Brandel, J-P, Amouyel, P, Lambert, J-C, Parchi, P, Bartoletti-Stella, A, Capellari, S, Poleggi, A, Ladogana, A, Pocchiari, M, Aneli, S, Matullo, G, Knight, R, Zafar, S, Zerr, I, Booth, S, Coulthart, M B, Jansen, G H, Glisic, K, Blevins, J, Gambetti, P, Safar, J, Appleby, B, Collinge, J & Mead, S 2020, ' Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease : a genome-wide association study ', Lancet Neurology, vol. 19, no. 10, pp. 840-848 . https://doi.org/10.1016/S1474-4422(20)30273-8

Background Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong risk factors for sCJD but

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7233c1ef4905578810d4be7f91aaa40

Regional and subtype-dependent miRNA signatures in sporadic Creutzfeldt-Jakob disease are accompanied by alterations in miRNA silencing machinery and biogenesis

Autor: Natalia Fernández-Borges, Ana Vivancos, Eulàlia Martí, Katrin Thüne, Saima Zafar, Eirini Kanata, Inga Zerr, Juan María Torres, Theodoros Sklaviadis, Orr Shomroni, José Antonio del Río, Daniela Diaz-Lucena, Franc Llorens, Uwe Michel, Stefan Bonn, Dimitra Dafou, Andre Fischer, Olivier Andreoletti, Isidre Ferrer, Juana Díez, Matthias Schmitz

Publikováno v: PLoS Pathogens, Vol 14, Iss 1, p e1006802 (2018)
Recercat. Dipósit de la Recerca de Catalunya
instname
Repositorio de Resultados de Investigación del INIA
Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria INIA
INIA: Repositorio de Resultados de Investigación del INIA
Plos Pathogens 1 (14), e1006802. (2018)
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS pathogens 14(1), e1006802 (2018). doi:10.1371/journal.ppat.1006802
PLoS Pathogens
PLoS Pathogens, Public Library of Science, 2018, 14 (1), pp.e1006802. ⟨10.1371/journal.ppat.1006802⟩

Increasing evidence indicates that microRNAs (miRNAs) are contributing factors to neurodegeneration. Alterations in miRNA signatures have been reported in several neurodegenerative dementias, but data in prion diseases are restricted to ex vivo and a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a635579ef1f879de4915131897f782a
http://europepmc.org/articles/PMC5794191?pdf=render

Reelin expression in Creutzfeldt-Jakob disease and experimental models of transmissible spongiform encephalopathies

Autor: Jesús R. Requena, Juan María Torres, Franc Llorens, Inga Zerr, Isidro Ferrer, Agata Mata, Katrin Thüne, Alejandro M. Sevillano, Silvia Vilches, Rosalina Gavín, Olivier Andreoletti, Juan Carlos Espinosa, Laura Urrea, José Antonio del Río

Publikováno v: Repositorio de Resultados de Investigación del INIA
INIA: Repositorio de Resultados de Investigación del INIA
Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria INIA
Molecular Neurobiology
Molecular Neurobiology, Humana Press, 2017, 54 (8), pp.6412-6425. ⟨10.1007/s12035-016-0177-8⟩
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Molecular neurobiology 54(8), 6412-6425 (2016). doi:10.1007/s12035-016-0177-8

Reelin is an extracellular glycoprotein involved in key cellular processes in developing and adult nervous system, including regulation of neuronal migration, synapse formation, and plasticity. Most of these roles are mediated by the intracellular ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9b7f6eb472672bf32b4d8f6fe47b0c
https://hdl.handle.net/20.500.12792/2828

PrP mRNA and protein expression in brain and PrPcin CSF in Creutzfeldt-Jakob disease MM1 and VV2

Autor: Isidre Ferrer, Belén Ansoleaga, José Antonio del Río, Ellen Gelpi, Irene López-González, Saima Zafar, Jordi Yagüe, Margarita Carmona, Carlos Nos, Inga Zerr, Franc Llorens, Paula Garcia-Esparcia, R. Blanco, Oriol Grau-Rivera

Publikováno v: Prion 7(5), 383-393 (2013). doi:10.4161/pri.26416

Creutzfeldt-Jakob disease (CJD) is a heterogenic neurodegenerative disorder associated with abnormal post-translational processing of cellular prion protein (PrP(c)). CJD displays distinctive clinical and pathological features which correlate with th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59669034d7a90c4ce1008b4983b008df
https://doi.org/10.4161/pri.26416