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1,751 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that …
When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltag …
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.
Sjøstrøm E, Studniarczyk D, Dou X, Dahl RS, Cruz V, Wang H, Mercier S, Deb W, Besnard T, Friedman J, Essid M, Karoui S, Jemaa LB, Benyounes T, Lesca G, Tonduti D, Iascone M, Orcesi S, Fradin M, Dubourg C, Napuri S, Cull-Candy SG, Coombs ID, Farrant M, Bayat A. Sjøstrøm E, et al. Clin Genet. 2025 Nov;108(5):553-565. doi: 10.1111/cge.14770. Epub 2025 May 20. Clin Genet. 2025. PMID: 40391499 Free PMC article.
GRIA-related disorders arise from disease-causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-type glutamate receptors (AMPARs). ...We recruited nine unrelated patients with either known disease-cau …
GRIA-related disorders arise from disease-causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode alpha-amino-3-hydroxy-5-methy …
The disruption of circadian rhythmicity of gene expression in the hippocampus and associated structures in Gria2(R/R) mice; a comparison with C57BL/6J and Adar2(-/-) mice strains.
Lebedeva M, Kubištová A, Spišská V, Filipovská E, Pačesová D, Svobodová I, Kuchtiak V, Balík A, Bendová Z. Lebedeva M, et al. Brain Res. 2024 Mar 1;1826:148739. doi: 10.1016/j.brainres.2023.148739. Epub 2023 Dec 27. Brain Res. 2024. PMID: 38157956
These mice are viable only when the Q/R editing site of the Gria2 subunit of the AMPA receptor is constitutively mutated to the codon for arginine, and Gria2(R/R) mice often serve as the sole control for Adar2(-/-) mice. Our study aimed to investigate whether ADAR2 …
These mice are viable only when the Q/R editing site of the Gria2 subunit of the AMPA receptor is constitutively mutated to the codon …
miR-181a is a negative regulator of GRIA2 in methamphetamine-use disorder.
Zhang K, Wang Q, Jing X, Zhao Y, Jiang H, Du J, Yu S, Zhao M. Zhang K, et al. Sci Rep. 2016 Oct 21;6:35691. doi: 10.1038/srep35691. Sci Rep. 2016. PMID: 27767084 Free PMC article.
Bioinformatic analysis predicted that miR-181a might bind the 3'-UTRs of the mRNA transcripts of the human glutamate receptor genes GRIA2 and GABRA1. In this study, we measured the expression of GRIA2 and GABRA1 in patients with methamphetamine-use disorder. In addi …
Bioinformatic analysis predicted that miR-181a might bind the 3'-UTRs of the mRNA transcripts of the human glutamate receptor genes GRIA2 …
Calcium-permeable AMPA receptors govern PV neuron feature selectivity.
Hong I, Kim J, Hainmueller T, Kim DW, Keijser J, Johnson RC, Park SH, Limjunyawong N, Yang Z, Cheon D, Hwang T, Agarwal A, Cholvin T, Krienen FM, McCarroll SA, Dong X, Leopold DA, Blackshaw S, Sprekeler H, Bergles DE, Bartos M, Brown SP, Huganir RL. Hong I, et al. Nature. 2024 Nov;635(8038):398-405. doi: 10.1038/s41586-024-08027-2. Epub 2024 Oct 2. Nature. 2024. PMID: 39358515 Free PMC article.
Excitatory neurons express calcium-impermeable AMPARs that contain the GluA2 subunit (encoded by GRIA2), whereas PV interneurons express receptors that lack the GluA2 subunit and are calcium-permeable (CP-AMPARs). ...We find low expression stoichiometry of GRIA2 mRN …
Excitatory neurons express calcium-impermeable AMPARs that contain the GluA2 subunit (encoded by GRIA2), whereas PV interneurons expr …
GRIA2 is a novel diagnostic marker for solitary fibrous tumour identified through gene expression profiling.
Vivero M, Doyle LA, Fletcher CD, Mertens F, Hornick JL. Vivero M, et al. Histopathology. 2014 Jul;65(1):71-80. doi: 10.1111/his.12377. Epub 2014 Apr 2. Histopathology. 2014. PMID: 24456377
Gene expression studies of SFT revealed high expression of the GRIA2 gene. The aim of this study was to examine GRIA2 expression in SFTs and other soft tissue tumours to evaluate its diagnostic utility. ...GRIA2 shows a limited distribution in other soft tiss …
Gene expression studies of SFT revealed high expression of the GRIA2 gene. The aim of this study was to examine GRIA2 expressi …
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.
Calcia A, Gai G, Di Gregorio E, Talarico F, Naretto VG, Migone N, Pepe E, Grosso E, Brusco A. Calcia A, et al. Am J Med Genet A. 2013 Oct;161A(10):2656-62. doi: 10.1002/ajmg.a.36146. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038848 Review.
In our case, array-CGH analysis documented two de novo deletions (1.2 Mb and 400 Kb) of the long arm of chromosome 4, containing four genes: platelet-derived growth factor C (PDGFC), glycine receptor beta subunit (GLRB), glutamate receptor ionotropic AMPA2 (GRIA2), and F-b …
In our case, array-CGH analysis documented two de novo deletions (1.2 Mb and 400 Kb) of the long arm of chromosome 4, containing four genes: …
A circuit of mossy cells controls the efficacy of memory retrieval by Gria2I inhibition of Gria2.
Li X, Chen W, Yu Q, Zhang Q, Zhang T, Huang X, Li H, He A, Yu H, Jing W, Du H, Ke X, Zhang B, Tian Q, Liu R, Lu Y. Li X, et al. Cell Rep. 2021 Feb 16;34(7):108741. doi: 10.1016/j.celrep.2021.108741. Cell Rep. 2021. PMID: 33596426 Free article.
A long noncoding RNA (Gria2I) is associated with Gria2 transcriptional repressors in SST cells. Silencing Gria2I induces Gria2 transcription, blocks LTP of MCs-SST synaptic transmission, and reduces the efficacy of memory retrieval. Thus, MCs directly and functional …
A long noncoding RNA (Gria2I) is associated with Gria2 transcriptional repressors in SST cells. Silencing Gria2I induces Gria2 …
1,751 results