نتائج البحث - "Ana Santos-Gómez"

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Ministerio de Ciencia e Innovación (España), Fundación Tatiana Pérez de Guzmán el Bueno

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::534d55e16ce39019e2078516c9be3bb3
https://pubmed.ncbi.nlm.nih.gov/33043365

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Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

المؤلفون: Olga Alonso-Luengo, Deyanira García-Navas, Juan José García-Peñas, Federico Miguez-Cabello, Mireia Olivella, Xavier Altafaj, Antonio Hedrera-Fernandez, Víctor Soto-Insuga, Angels García-Cazorla, David Soto, Natalia Juliá-Palacios, Ignacio Málaga, Laura Cuesta, Ana Santos-Gómez, Salvador Ibáñez-Micó, Patricia Andreo-Lillo, Gema Gutiérrez-Aguilar, Ramón Cancho, Patricia Fuentes

المصدر: International Journal of Molecular Sciences
Dipòsit Digital de la UB
Universidad de Barcelona
International Journal of Molecular Sciences; Volume 22; Issue 23; Pages: 12656
International Journal of Molecular Sciences, Vol 22, Iss 12656, p 12656 (2021)

مصطلحات موضوعية: Neurobiologia del desenvolupament, Male, Models, Molecular, GRIN-related disorders, glutamatergic neurotransmission, NMDA receptors, neurodevelopmental disorders, Protein Conformation, Cohort Studies, Chlorocebus aethiops, Developmental neurobiology, Biology (General), Child, Spectroscopy, Genetics, Brain Diseases, biology, General Medicine, Computer Science Applications, Chemistry, Child, Preschool, COS Cells, Female, Ionotropic effect, Adolescent, QH301-705.5, Protein subunit, Encephalopathy, Nerve Tissue Proteins, Receptors, N-Methyl-D-Aspartate, Article, Catalysis, Inorganic Chemistry, medicine, Animals, Humans, Physical and Theoretical Chemistry, QD1-999, Molecular Biology, Gene, Neural transmission, Organic Chemistry, Infant, GRIN1, medicine.disease, HEK293 Cells, Spain, Mutation, biology.protein, Neurotransmissió, GRIN2A, GRIN2B, Biogenesis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f956d84520485912f61946173071079b
https://doi.org/10.3390/ijms222312656

Find this article in full text from ProQuest

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L-Serine dietary supplementation is associated with clinical improvement of loss-of-function

المصدر: Science signaling. 12(586)

مصطلحات موضوعية: Male, Models, Molecular, Brain Diseases, N-Methylaspartate, Motor Activity, Receptors, N-Methyl-D-Aspartate, Mice, Cognition, Loss of Function Mutation, Dietary Supplements, Rett Syndrome, Serine, Animals, Humans, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4f6efa2d5ad7cb4ba8480463a1eb1a24
https://pubmed.ncbi.nlm.nih.gov/31213567

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l -Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B -related pediatric encephalopathy

المساهمون: University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, University of Catalonia, Partenaires INRAE, Hospital Sant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad santiago de cali, Biomedical Research Institute Sant Pau (IIB Sant Pau), Universitat Autònoma de Barcelona (UAB), Université Paris Saclay (COmUE), La Marato [20140210], Miguel Servet Program (ISCIII) [CPII16/00021], MINECOSpanish Ministry of Economy & Competitiveness [PCIN-2014-105, BFU2012-34398, BFU2015-69717-P], MICINNMinistry of Science and Innovation, Spain (MICINN) [BFU2017-83317-P], ISCIIIInstituto de Salud Carlos III [PI15/01082, PI16/00851], Career Integration Grant [304111], Ramon y Cajal FellowshipMinistry of Education and Science, Spain [RYC-2011-08391p], MINECO/FEDER [SAF2012-40102], FP7 Marie Curie CIG grant [631035], RETIC [RD16/0008/0014], MetaboHUB project [ANR-11-INBS-0010], FPI contract (MINECO), AGAURAgencia de Gestio D'Ajuts Universitaris de Recerca Agaur (AGUAR) [SGR14-297], Fundacion Tatiana Perez de Guzman el Bueno PhD fellowship, European Regional Development Fund (ERDF), a way to build Europe, [SAF2016-77830-R], [RYC-2011-08026], [PI17/00296], European Project: 221540,EC:FP7:PEOPLE,FP7-PEOPLE-2007-2-1-IEF,PSIEMBL(2009)

المصدر: Science Signaling
Science Signaling, American Association for the Advancement of Science (AAAS), 2019, 12 (586), ⟨10.1126/scisignal.aaw0936⟩
Science Signaling, American Association for the Advancement of Science, 2019, 12 (586), ⟨10.1126/scisignal.aaw0936⟩

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a485530372c1d7b5d759129f75ae94
https://doi.org/10.1126/scisignal.aaw0936

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