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Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
Oyarzabal A, Xiol C, Castells AA, Grau C, O'Callaghan M, Fernández G, Alcántara S, Pineda M, Armstrong J, Altafaj X, García-Cazorla A. Oyarzabal A, et al. Among authors: altafaj x. Int J Mol Sci. 2020 Jan 14;21(2):518. doi: 10.3390/ijms21020518. Int J Mol Sci. 2020. PMID: 31947619 Free PMC article.
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy.
Soto D, Olivella M, Grau C, Armstrong J, Alcon C, Gasull X, Santos-Gómez A, Locubiche S, Gómez de Salazar M, García-Díaz R, Gratacòs-Batlle E, Ramos-Vicente D, Chu-Van E, Colsch B, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, García-Cazorla À, Altafaj X. Soto D, et al. Among authors: altafaj x. Sci Signal. 2019 Jun 18;12(586):eaaw0936. doi: 10.1126/scisignal.aaw0936. Sci Signal. 2019. PMID: 31213567
Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.
Soto D, Olivella M, Grau C, Armstrong J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, García-Cazorla À, Altafaj X. Soto D, et al. Among authors: altafaj x. Biol Psychiatry. 2018 Jan 15;83(2):160-172. doi: 10.1016/j.biopsych.2017.05.028. Epub 2017 Jun 16. Biol Psychiatry. 2018. PMID: 28734458 Retracted.
Glutamatergic stimulation induces GluN2B translation by the nitric oxide-Heme-Regulated eIF2α kinase in cortical neurons.
Ramos-Fernández E, Tajes M, Ill-Raga G, Vargas L, Busquets-García A, Bosch-Morató M, Guivernau B, Valls-Comamala V, Gomis M, Grau C, Fandos C, Rosen MD, Rabinowitz MH, Inestrosa N, Maldonado R, Altafaj X, Ozaita A, Alvarez A, Vicente R, Valverde MA, Muñoz FJ. Ramos-Fernández E, et al. Among authors: altafaj x. Oncotarget. 2016 Sep 13;7(37):58876-58892. doi: 10.18632/oncotarget.11417. Oncotarget. 2016. PMID: 27557499 Free PMC article.
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
Santos-Gómez A, Miguez-Cabello F, García-Recio A, Locubiche-Serra S, García-Díaz R, Soto-Insuga V, Guerrero-López R, Juliá-Palacios N, Ciruela F, García-Cazorla À, Soto D, Olivella M, Altafaj X. Santos-Gómez A, et al. Among authors: altafaj x. Hum Mol Genet. 2021 Feb 25;29(24):3859-3871. doi: 10.1093/hmg/ddaa220. Hum Mol Genet. 2021. PMID: 33043365
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