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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. Retraction in: Biol Psychiatry. 2018 Apr 15;83(8):715. doi: 10.1016/j.biopsych.2017.12.012 PMID: 28734458 Retracted.
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
A primate-specific short GluN2A-NMDA receptor isoform is expressed in the human brain.
Warming H, Pegasiou CM, Pitera AP, Kariis H, Houghton SD, Kurbatskaya K, Ahmed A, Grundy P, Vajramani G, Bulters D, Altafaj X, Deinhardt K, Vargas-Caballero M. Warming H, et al. Among authors: altafaj x. Mol Brain. 2019 Jul 4;12(1):64. doi: 10.1186/s13041-019-0485-9. Mol Brain. 2019. PMID: 31272478 Free PMC article.
Gene therapy for Down syndrome.
Fillat C, Altafaj X. Fillat C, et al. Among authors: altafaj x. Prog Brain Res. 2012;197:237-47. doi: 10.1016/B978-0-444-54299-1.00012-1. Prog Brain Res. 2012. PMID: 22541296 Review.
44 results