Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID:An emerging neurodevelopmental syndrome

Autor: Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen L. Stals, Emma Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe M. Lyngby, Miriam G. Pedersen, Julie Desir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle

Publikováno v: Ismail, V, Zachariassen, L G, Godwin, A, Sahakian, M, Ellard, S, Stals, K L, Baple, E, Brown, K T, Foulds, N, Wheway, G, Parker, M O, Lyngby, S M, Pedersen, M G, Desir, J, Bayat, A, Musgaard, M, Guille, M, Kristensen, A S & Baralle, D 2022, ' Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID : An emerging neurodevelopmental syndrome ', American Journal of Human Genetics, vol. 109, no. 7, pp. 1217-1241 . https://doi.org/10.1016/j.ajhg.2022.05.009

GRIA1 encodes the GluA1 subunit of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for the neurotransmitter L-glutamate (Glu). AMPA receptors (AMPARs) are ho

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https://curis.ku.dk/portal/da/publications/identification-and-functional-evaluation-of-gria1-missense-and-truncation-variants-in-individuals-with-id(9576e283-94cc-4daf-91c3-e74d23a8b35f).html