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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: soto insuga v, soto d. Hum Mol Genet. 2021 Feb 25;29(24):3859-3871. doi: 10.1093/hmg/ddaa220. Hum Mol Genet. 2021. PMID: 33043365
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. 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.
Mechanisms of CPT1C-Dependent AMPAR Trafficking Enhancement.
Gratacòs-Batlle E, Olivella M, Sánchez-Fernández N, Yefimenko N, Miguez-Cabello F, Fadó R, Casals N, Gasull X, Ambrosio S, Soto D. Gratacòs-Batlle E, et al. Among authors: soto d. Front Mol Neurosci. 2018 Aug 8;11:275. doi: 10.3389/fnmol.2018.00275. eCollection 2018. Front Mol Neurosci. 2018. PMID: 30135643 Free PMC article.
Human Autoantibodies against the AMPA Receptor Subunit GluA2 Induce Receptor Reorganization and Memory Dysfunction.
Haselmann H, Mannara F, Werner C, Planagumà J, Miguez-Cabello F, Schmidl L, Grünewald B, Petit-Pedrol M, Kirmse K, Classen J, Demir F, Klöcker N, Soto D, Doose S, Dalmau J, Hallermann S, Geis C. Haselmann H, et al. Among authors: soto d. Neuron. 2018 Oct 10;100(1):91-105.e9. doi: 10.1016/j.neuron.2018.07.048. Epub 2018 Aug 23. Neuron. 2018. PMID: 30146304 Free 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. Sci Signal. 2019 Jun 18;12(586):eaaw0936. doi: 10.1126/scisignal.aaw0936. Sci Signal. 2019. PMID: 31213567
Encephalitis with Autoantibodies against the Glutamate Kainate Receptors GluK2.
Landa J, Guasp M, Míguez-Cabello F, Guimarães J, Mishima T, Oda F, Zipp F, Krajinovic V, Fuhr P, Honnorat J, Titulaer M, Simabukuro M, Planagumà J, Martínez-Hernández E, Armangué T, Saiz A, Gasull X, Soto D, Graus F, Sabater L, Dalmau J; GluK2 encephalitis study group. Landa J, et al. Among authors: soto d. Ann Neurol. 2021 Jul;90(1):101-117. doi: 10.1002/ana.26098. Epub 2021 May 17. Ann Neurol. 2021. PMID: 33949707 Free article.
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Santos-Gómez A, Miguez-Cabello F, Juliá-Palacios N, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, García-Cazorla À, Soto D, Olivella M, Altafaj X. Santos-Gómez A, et al. Among authors: soto insuga v, soto d. Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656. Int J Mol Sci. 2021. PMID: 34884460 Free PMC article.
492 results