SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

Bergareche A, Bednarz M, Sánchez E, Krebs CE, Ruiz-Martinez J, De la Riva P, Makarov V, Gorostidi A, Jurkat-Rott K, Marti-Masso JF, Paisán-Ruiz C

Hum Mol Genet. 2015; 24 (24): 7111-20. FI: 6.677.

30/06/15

APT H1 Haplotype is Associated with Late-Onset Alzheimer’s Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium

Pastor P, Moreno F, Clarimón J, Ruiz A, Combarros O, Calero M, López de Munain A, Bullido MJ, de Pancorbo MM, Carro E, Antonell A, Coto E, Ortega-Cubero S, Hernandez I, Tárraga L, Boada M, Lleó A, Dols-Icardo O, Kulisevsky J, Vázquez-Higuera JL, Infante J, Rábano A, Fernández-Blázquez MÁ, Valentí M, Indakoetxea B, Barandiarán M, Gorostidi A, Frank-García A, Sastre I, Lorenzo E, Pastor MA, Elcoro Aristizabal X, Lennarz M, Maier W, Rámirez A, Serrano-Ríos M, Lee SE, Sánchez-Juan P

J Alzheimers Dis. 2015; 49 (2): 343-52. FI: 4.151.

30/06/15

Beyond Asexual Development: Modifications in the Gene Expression Profile Caused by the Absence of the Aspergillus nidulans Transcription Factor FlbB

Oiartzabal-Arano E, Garzia A, Gorostidi A, Ugalde U, Espeso EA, Etxebeste O

Genetics. 2015; 199 (4): 1127-42. FI: 4.866.

30/06/15

?-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers.

Gorostidi A, Bergareche A, Ruiz-Martínez J, Martí-Massó JF, Cruz M, Varghese S, Qureshi MM, Alzahmi F, Al-Hayani A, de Munáin AL, El-Agnaf OM.

PLoS One.

27/12/12

Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.

Moreno F, Alzualde A, Camblor PM, Barandiaran M, Van Deerlin VM, Gabilondo A, MartíMassó JF, López de Munain A, Indakoetxea B.

Neurogenetics, Alzheimer Dis AssocDisord

13/11/12

The MAPK1/3 pathway is essential for the deregulation of autophagy observed in G2019S LRRK2 mutant fibroblasts.

Bravo-San Pedro JM, Gómez-Sánchez R, Niso-Santano M, Pizarro-Estrella E, Aiastui-Pujana A, Gorostidi A, Climent V, López de Maturana R, Sánchez-Pernaute R, López de Munain A, Fuentes JM, González-Polo RA.

Autophagy.

08/10/12

Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide.

García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, de Munain AL, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AA, Mora JS, Clarimón J; The C9ORF72 SpanishStudyGroup, Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A.

Hum Mutat.

30/08/12

The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway.

Bravo-San Pedro JM, Niso-Santano M, Gómez-Sánchez R, Pizarro-Estrella E, Aiastui-Pujana A, Gorostidi A, Climent V, López de Maturana R, Sánchez-Pernaute R, López de Munain A, Fuentes JM, González-Polo RA.

Cell Mol Life Sci.

08/07/12

Oncogenicity of the transcription factor Sox9.

Matheu A, Collado M, Wise C, Manterola L, Cekaite L, Tye A, Canamero M, Bujanda L, Schedl A, Cheah K, Skotheim R, Lothe R, López de Munain A, Briscoe J, Serrano M & Novell-Badge R.

CancerResearch.

07/05/12

Current Mutation Discovery Approaches in Retinitis Pigmentosa.

Ander Anasagasti; Cristina Irigoyen; Olatz Barandika; Adolfo López de Munain, Javier Ruiz-Ederra.

Vision Research

07/05/12