Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement

Autor: Soto D, Olivella M, Grau C, Armstrong-Moron 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, Garcia-Cazorla A, Altafaj X

Publikováno v: BIOLOGICAL PSYCHIATRY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

BACKGROUND: N-Methyl-D-aspartate receptors (NMDARs) play pivotal roles in synaptic development, plasticity, neural survival, and cognition. Despite recent reports describing the genetic association between de novo mutations of NMDAR subunits and seve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::51a33ae16ccf0fbef8587bb17d179b4c
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12971

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

Autor: Soto D; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.; Department of Biomedicine, University of Barcelona, Barcelona 08036, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona 08036, Spain., Olivella M; Bioinfomatics and Medical Statistics Group, University of Vic-Central University of Catalonia, Vic 08500, Spain., Grau C; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain., Armstrong J; Genetics and Molecular Medicine Service, Hospital Sant Joan de Déu and CIBERER, Barcelona 08950, Spain., Alcon C; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.; Department of Clinical Foundations, University of Barcelona, Barcelona 08036, Spain., Gasull X; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.; Department of Biomedicine, University of Barcelona, Barcelona 08036, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona 08036, Spain., Santos-Gómez A; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain., Locubiche S; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain., Gómez de Salazar M; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain., García-Díaz R; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.; Department of Biomedicine, University of Barcelona, Barcelona 08036, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona 08036, Spain.; Grupo de Investigación en Química y Biotecnología (QUIBIO), Universidad de Santiago de Cali, Santiago de Cali 760035, Colombia., Gratacòs-Batlle E; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.; Department of Biomedicine, University of Barcelona, Barcelona 08036, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona 08036, Spain., Ramos-Vicente D; Molecular Physiology of the Synapse Laboratory, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona 08026, Spain.; Autonomous University of Barcelona, Bellaterra 08193, Spain., Chu-Van E; Service de Pharmacologie et d'Immunoanalyse (SPI), Laboratoire d'Etude du Métabolisme des Médicaments, CEA, INRA, Université Paris Saclay, MetaboHUB, F-91191 Gif-sur-Yvette, France., Colsch B; Service de Pharmacologie et d'Immunoanalyse (SPI), Laboratoire d'Etude du Métabolisme des Médicaments, CEA, INRA, Université Paris Saclay, MetaboHUB, F-91191 Gif-sur-Yvette, France., Fernández-Dueñas V; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain., Ciruela F; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain., Bayés À; Molecular Physiology of the Synapse Laboratory, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona 08026, Spain.; Autonomous University of Barcelona, Bellaterra 08193, Spain., Sindreu C; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.; Department of Clinical Foundations, University of Barcelona, Barcelona 08036, Spain., López-Sala A; Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu and CIBERER, Barcelona 08950, Spain., García-Cazorla À; Genetics and Molecular Medicine Service, Hospital Sant Joan de Déu and CIBERER, Barcelona 08950, Spain. xaltafaj@idibell.cat agarcia@sjdhospitalbarcelona.org.; Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu and CIBERER, Barcelona 08950, Spain., Altafaj X; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain. xaltafaj@idibell.cat agarcia@sjdhospitalbarcelona.org.

Publikováno v: Science signaling [Sci Signal] 2019 Jun 18; Vol. 12 (586). Date of Electronic Publication: 2019 Jun 18.

[Lipid profile in children from Rivas-Vaciamadrid. Two-year follow-up].

Autor: Peláez Gómez de Salazar MJ; Centro de Salud de Rivas-Vaciamadrid. Hospital del Niño Jesús. Madrid., Sánchez Bayle M, González-Requejo A, Ruiz-Jarabo Quemada C, Asensio Antón J, Otero de Becerrea J

Publikováno v: Anales espanoles de pediatria [An Esp Pediatr] 2000 May; Vol. 52 (5), pp. 443-6.