Projects
Date
Title
Call
Financial Institution
2006-2007
Development of a new kit to detect mutations and polymorphisms in the human mitochondrial genome
Biotec Cam
Comunidad Autónoma de Madrid
2007-2007
Development of a high-throughput diagnostic system to detect mutations and polymorphisms associated with age-related macular degeneration
Profit
M° de Educación y Ciencia
2007-2008
Development of a high-throughput diagnostic system to detect mutations and polymorphisms associated with human nonsyndromic deafness
Biotec Cam
Comunidad Autónoma de Madrid
2007-2011
The microbial metagenome of the iberian peninsula
Consolider
Ministerio de Ciencia e Innovación
2008-2008
Development and probe of concept of a high-throughput diagnostic system to detect mutations and polymorphisms associated with age-related macular degeneration
Biotec Cam
Comunidad Autónoma de Madrid
2010-2013
Development of new DNA polymerases for amplification, modification and genetic analysis of DNA
Innpacto
Ministerio de Ciencia e Innovación
2016-2019
Integrated platform for molecular diagnostic of complement system related diseases
Retos
Unión Europea y Ministerio de Economía, Industria y Competitividad
Papers
"ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels "
Pablo Agüero-Rabes,
Julián Pérez-Pérez, Lucía Cremades-Jimeno, María-Salud García-Ayllón, Adriana Gea-González, María José Sainz, Ignacio Mahillo-Fernández, Raquel Téllez, Blanca Cárdaba, Javier Sáez-Valero and Estrella Gómez-Tortosa
Int. J. Mol. Sci. 2023, 24(7), 6113. Received: 14 February 2023 / Revised: 13 March 2023 / Accepted: 21 March 2023 / Published: 24 March 2023
"TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism "
Estrella Gómez-Tortosa, Yalda Baradaran-Heravi, Lubina Dillen, Nila Roy Choudhury, Pablo Agüero Rabes,
Julián Pérez-Pérez, Cemile Kocoglu, M. José Sainz, Alicia Ruiz González, Raquel Téllez, Lucía Cremades-Jimeno, Blanca Cárdaba, EU EOD Consortium, Christine Van Broeckhoven, Gracjan Michlewski, Julie van der Zee
Alzheimer's & dementia, Received: 8 July 2022 / Revised: 27 September 2022 / Accepted: 10 November 2022 Published: 28 Dec 2022
"Association between CFH, CFB, ARMS2, SERPINF1, VEGFR1 and VEGF polymorphisms and anatomical and functional response to ranibizumab treatment in neovascular age-related macular degeneration."
Cobos E, Recalde S, Anter J, Hernandez-Sanchez M, Barreales C,
Olavarrieta L, Valverde A, Suarez-Figueroa M, Cruz F, Abraldes M,
Pérez-Pérez J, Fernández-Robredo P, Arias L, García-Layana A.
Acta Ophthalmol. 2017 Sep 19. doi: 10.1111/aos.13519.
"Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation"
Gómez-Tortosa E, Van der Zee J, Ruggiero M, Gijselinck I, Esteban-Pérez J, García-Redondo A, Borrego-Hernández D, Navarro E, Sainz MJ,
Pérez-Pérez J, Cruts M, Van Broeckhoven C, Guerrero-López R; EU EOD Consortium.
J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):996-997. doi: 10.1136/jnnp-2016-315250. Epub 2017 Apr 1.
"Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion"
Gómez-Tortosa E, Prieto-Jurczynska C, Serrano S, Franco-Macías E, Olivié L, Gallego J, Guerrero-López R, Trujillo-Tiebas MJ, Ayuso C, García Ruiz P,
Pérez-Pérez J, Sainz MJ.
J Alzheimers Dis. 2016 Feb 26;52(1):25-31. doi: 10.3233/JAD-150922.
"Sequencing of diverse mandarin, pummelo and orange genomes reveals complex history of admixture during citrus domestication"
Wu GA, Prochnik S, Jenkins J, Salse J, Hellsten U, Murat F, Perrier X, Ruiz M, Scalabrin S, Terol J, Takita MA, Labadie K, Poulain J, Couloux A, Jabbari K, Cattonaro F, Del Fabbro C, Pinosio S, Zuccolo A, Chapman J, Grimwood J, Tadeo FR, Estornell LH, Muñoz-Sanz JV, Ibanez V, Herrero-Ortega A, Aleza P,
Pérez-Pérez J, Ramón D, Brunel D, Luro F, Chen C, Farmerie WG, Desany B, Kodira C, Mohiuddin M, Harkins T, Fredrikson K, Burns P, Lomsadze A, Borodovsky M, Reforgiato G, Freitas-Astúa J, Quetier F, Navarro L, Roose M, Wincker P, Schmutz J, Morgante M, Machado MA, Talon M, Jaillon O, Ollitrault P, Gmitter F, Rokhsar D.
Nat Biotechnol. 2014 Jun 8. doi: 10.1038/nbt.2906
"C9ORF72 Hexanucleotide expansions of only 20-22 repeats are associated with frontotemporal dementia"
Gómez-Tortosa E, Gallego J, Guerrero-López R, Marcos A, Gil-Neciga E, Sainz MJ,
Díaz A,
Franco-Macías E, Trujillo-Tiebas MJ, Ayuso C, and
Pérez-Pérez J
Neurology. 2013 Jan 22;80(4):366-70. doi: 10.1212/WNL.0b013e31827f08ea. Epub 2013 Jan 2.
"Taxonomic and functional metagenomic profiling of the microbial community in the anoxic sediment of a sub-saline shallow lake (Laguna de Carrizo, Central Spain)."
Ferrer M, Guazzaroni ME, Richter M, García-Salamanca A, Yarza P, Suárez-Suárez A, Solano J, Alcaide M, van Dillewijn P, Molina-Henares MA, López-Cortés N, Al-Ramahi Y, Guerrero C, Acosta A, de Eugenio LI, Martínez V, Marques S, Rojo F, Santero E, Genilloud O,
Pérez-Pérez J,
Rosselló-Móra R, Ramos JL
Microb Ecol. 2011 Nov;62(4):824-37. doi: 10.1007/s00248-011-9903-y. Epub 2011 Jul 7.
"Clinical-genetic correlations in familiar Alzheimer's disease caused by presenilin 1 mutations"
Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz D, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I,
Pérez-Pérez J,
Jiménez-Escrig A
J Alzheimers Dis. 2010;19(3):873-84. doi: 10.3233/JAD-2010-1292.