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Decreased striatal adenosine A2A-dopamine D2 receptor heteromerization in schizophrenia.
Valle-León M, Callado LF, Aso E, Cajiao-Manrique MM, Sahlholm K, López-Cano M, Soler C, Altafaj X, Watanabe M, Ferré S, Fernández-Dueñas V, Menchón JM, Ciruela F. Valle-León M, et al. Among authors: altafaj x. Neuropsychopharmacology. 2021 Feb;46(3):665-672. doi: 10.1038/s41386-020-00872-9. Epub 2020 Oct 3. Neuropsychopharmacology. 2021. PMID: 33010795 Free PMC article.
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.
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
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
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.
44 results