l -Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B -related pediatric encephalopathy-Reference-Cited by-同舟云学术

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

Published:2019-06-18 Issue:586 Volume:12 Page:
ISSN:1945-0877
Container-title:Science Signaling
language:en
Short-container-title:Sci. Signal.

Author:

Soto David¹²³^ORCID,Olivella Mireia⁴^ORCID,Grau Cristina⁵^ORCID,Armstrong Judith⁶^ORCID,Alcon Clara¹⁷^ORCID,Gasull Xavier¹²³^ORCID,Santos-Gómez Ana⁵,Locubiche Sílvia⁵,Gómez de Salazar Macarena⁵^ORCID,García-Díaz Roberto¹²³⁸,Gratacòs-Batlle Esther¹²³^ORCID,Ramos-Vicente David⁹¹⁰,Chu-Van Emeline¹¹^ORCID,Colsch Benoit¹¹^ORCID,Fernández-Dueñas Víctor⁵^ORCID,Ciruela Francisco⁵,Bayés Àlex⁹¹⁰^ORCID,Sindreu Carlos¹⁷,López-Sala Anna¹²,García-Cazorla Àngels⁶¹²^ORCID,Altafaj Xavier⁵^ORCID

Affiliation:

1. Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.

2. Department of Biomedicine, University of Barcelona, Barcelona 08036, Spain.

3. August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona 08036, Spain.

4. Bioinfomatics and Medical Statistics Group, University of Vic–Central University of Catalonia, Vic 08500, Spain.

5. Bellvitge Biomedical Research Institute (IDIBELL)–Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain.

6. Genetics and Molecular Medicine Service, Hospital Sant Joan de Déu and CIBERER, Barcelona 08950, Spain.

7. Department of Clinical Foundations, University of Barcelona, Barcelona 08036, Spain.

8. Grupo de Investigación en Química y Biotecnología (QUIBIO), Universidad de Santiago de Cali, Santiago de Cali 760035, Colombia.

9. Molecular Physiology of the Synapse Laboratory, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona 08026, Spain.

10. Autonomous University of Barcelona, Bellaterra 08193, Spain.

11. 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.

12. Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu and CIBERER, Barcelona 08950, Spain.

Abstract

Dietary l -serine supplements correct NMDAR deficiency and neurodevelopmental defects in a pediatric patient.

Funder

Fundació la Marató de TV3

Agence Nationale de la Recherche

Ministerio de Economía y Competitividad

Instituto de Salud Carlos III

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Cell Biology,Molecular Biology,Biochemistry