Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder

Autor: Hollander, B. den, Veenvliet, A.R.J., Lindenschot, M., Essen, P. van, Peters, G., Santos-Gómez, A., Olivella, M., Altafaj, X., Brands, M.M., Jacobs, B.A.W., Karnebeek, C.D. van

Publikováno v: Molecular Genetics and Metabolism, 138, 3
Molecular Genetics and Metabolism, 138
Molecular Genetics and Metabolism, 138, 107523

Item does not contain fulltext RATIONALE: To date, causal therapy is potentially available for GRIN2B-related neurodevelopmental disorder (NDD) due to loss-of-function (LoF) variants in GRIN2B, resulting in dysfunction of the GluN2B subunit-containin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de1eb2095cd4c26c7540af1f1344fce
https://hdl.handle.net/2066/290912

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function

Autor: Santos-Gómez A, Miguez-Cabello F, García-Recio A, Locubiche S, García-Díaz R, Soto V, Guerrero-López R, Julià-Palacios NA, Ciruela F, Garcia-Cazorla A, Soto D, Olivella M, Altafaj X

Publikováno v: HUMAN MOLECULAR GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

De novo GRIN variants, encoding for the ionotropic glutamate NMDA receptor subunits, have been recently associated with GRIN-related disorders, a group of rare paediatric encephalopathies. Current investigational and clinical efforts are focused to f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0cf0343011e8634ef4682a289c0d0d4c
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18310

Role of HLA-E antigen presentation on NK control of HIV infection

Autor: Romero-Martin, L, Duran-Castells, C, Olivella, M, Rosas-Umbert, M, Ruiz-Riol, M, Olvera, A, Brander, C

Publikováno v: Journal of the International AIDS Society
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::c89ca7bd75dd7ffaf194e7c8daae39f0
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2149