A Functional Pipeline of Genome-Wide Association Data Leads to Midostaurin as a Repurposed Drug for Alzheimer’s Disease

Autor: Alvaro Esteban-Martos, Ana Maria Brokate-Llanos, Luis Miguel Real, Sonia Melgar-Locatelli, Itziar de Rojas, Adriana Castro-Zavala, Maria Jose Bravo, Maria del Carmen Mañas-Padilla, Pablo García-González, Maximiliano Ruiz-Galdon, Beatriz Pacheco-Sánchez, Rocío Polvillo, Fernando Rodriguez de Fonseca, Irene González, Estela Castilla-Ortega, Manuel J. Muñoz, Patricia Rivera, Armando Reyes-Engel, Agustin Ruiz, Jose Luis Royo

Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 15, p 12079 (2023)

Genome-wide association studies (GWAS) constitute a powerful tool to identify the different biochemical pathways associated with disease. This knowledge can be used to prioritize drugs targeting these routes, paving the road to clinical application.

Externí odkaz: https://doaj.org/article/700b5c6cce6f4078811bcef9c21a8e9a

A common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correction.

Autor: Jose Luis Royo, Joan Valls, Rafael D Acemel, Carlos Gómez-Marin, Mariona Pascual-Pons, Arantxa Lupiañez, Jose Luis Gomez-Skarmeta, Joan Fibla

Publikováno v: PLoS ONE, Vol 13, Iss 3, p e0193614 (2018)

Previous reports have proposed that personality may have played a role on human Out-Of-Africa migration, pinpointing some genetic variants that were positively selected in the migrating populations. In this work, we discuss the role of a common copy-

Externí odkaz: https://doaj.org/article/6263eb28a612480aabbd662d1fb3aa52

Differential metabolic profiles associated to movement behaviour of stream-resident brown trout (Salmo trutta).

Autor: Neus Oromi, Mariona Jové, Mariona Pascual-Pons, Jose Luis Royo, Rafel Rocaspana, Enric Aparicio, Reinald Pamplona, Antoni Palau, Delfi Sanuy, Joan Fibla, Manuel Portero-Otin

Publikováno v: PLoS ONE, Vol 12, Iss 7, p e0181697 (2017)

The mechanisms that can contribute in the fish movement strategies and the associated behaviour can be complex and related to the physiology, genetic and ecology of each species. In the case of the brown trout (Salmo trutta), in recent research works

Externí odkaz: https://doaj.org/article/05259ffc0a4f4b3e96e7d2e01ded52c3

Protective association of HLA-DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences

Autor: Emmanuel Mignot, Yann Le Guen, Guo Luo, Aditya Ambati, Vincent Damotte, Iris Jansen, Eric Yu, Aude Nicolas, Itziar de Rojas, Thiago Leal, Akinori Miyashita, Céline Bellenguez, Michelle Lian, Kayenat Parveen, Takashi Morizono, Hyeonseul Park, Benjamin Grenier-Boley, Tatsuhiko Naito, Fahri Küçükali, Seth Talyansky, Selina Yogeshwar, Vicente Sempere, Wataru Sempere, Victoria Álvarez, Beatrice Arosio, Michael Belloy, Luisa Benussi, Anne Boland, Barbara Borroni, Maria Jesus Bullido, Paolo Caffarra, Jordi Clarimon, Antonio DANIELE, Daniel Darling, Stéphanie Debette, Jean-François Deleuze, Martin Dichgans, Carole Dufouil, Emmanuel During, Emrah Düzel, Daniela Galimberti, Guillermo Garcia-Ribas, Jose María García-Alberca, Pablo García-González, Vilmantas Giedraitis, Oliver Goldhardt, Caroline Graff, Edna Grünblatt, Oliver Hanon, Lucrezia Hausner, Stefanie Heilmann-Heimbach, Henne Holstege, Jakub Hort, Yoo Jin Jung, Jürgen Deckert, Silke Kern, Teemu Kuulasmaa, Ling Ling, Carlo Masullo, Patrizia Mecocci, Shima Mehrabian, Alexandre de Mendonça, Merce Boada, Pablo Mir, Susanne Moebus, Fermin Moreno, Benedetta Nacmias, Gaël Nicolas, Shumpei Niida, Børge Nordestgaard, Goran Papenberg, Janne Papma, Lucilla Parnetti, Florence Pasquier, Pau Pastor, Oliver Peters, Yolande Pijnenburg, Gerard Piñol-Ripoll, Julius Popp, Laura Molina-Porcel, Raquel Puerta Fuentes, Jordi Pérez-Tur, Innocenzo Rainero, Inez Ramakers, Luis Real, Steffi Riedel-Heller, Eloy Rodriguez-Rodriguez, Jose Luis Royo, Dan Rujescu, Nikolaos Scarmeas, Philip Scheltens, Norbert Scherbaum, Anja Schneider, Davide Seripa, Ingmar Skoog, Vincenzo Solfrizzi, Gianfranco Spalletta, Alessio Squassina, John van Swieten, Raquel Sánchez-Valle, Eng-King Tan, Thomas Tegos, Charlotte Teunissen, Jesper Qvist Thomassen, Lucio Tremolizzo, Martin Vyhnalek, Frans Verhey, Margda Waern, Jens Wiltfang, Jing Zhang, Henrik Zetterberg, Kaj Blennow, Julie Williams, Philippe Amouyel, Frank Jessen, Patrick Kehoe, Ole Andreassen, Cornelia van Duijn, magda tsolaki, Pascual Sanchez-Juan, Ruth Frikke-Schmidt, Kristel Sleegers, Tatsushi Toda, Anna Zettergren, Martin Ingelsson, Yukinori Okada, Giacomina Rossi, Mikko Hiltunen, Jungsoo Gim, Kouichi Ozaki, Rebecca Sims, Jia Nee Foo, Wiesje van der Flier, Takeshi Ikeuchi, Alfredo Ramirez, Ignacio Mata, Agustín Ruiz, Ziv Gan-Or, Kun Ho Lee, Jean-Charles Lambert, Michael Greicius

Using genome-wide association data, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s (PD) or Alzheimer’s (AD) disease versus controls across ancestry groups. A shared genetic association was obse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1cfe637c6053647d8fc4845372916183
https://doi.org/10.21203/rs.3.rs-1285855/v1

Hardy Weinberg Equilibrium Disturbances in Case-Control Studies Lead to Non-Conclusive Results

Autor: Jose Luis Royo

Publikováno v: Cell Journal (Yakhteh)
Cell Journal, Vol 22, Iss 4, Pp 572-574 (2021)

Recently, it has been proposed the association of a common deletion affecting toll-like receptor 2 promoter (-196 to -177) to type 2 diabetes mellitus risk. However, genotyping results show a significant deviation from the Hardy- Weinberg Equilibrium

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1961abc6a820c7010e58ef75790f8001
http://europepmc.org/articles/PMC7211273