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Page 1
GRIA2-Related Neurodevelopmental Disorder.
Efthymiou S, Rumbos Siurana E, Salpietro V, Bayat A, Houlden H. Efthymiou S, et al. 2024 Jan 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Jan 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38224558 Free Books & Documents. Review.
Some children present with movement disorders, including chorea, dystonia, and dyskinesia. DIAGNOSIS/TESTING: The diagnosis of GRIA2-NDD is established in a proband with suggestive findings and a heterozygous pathogenic variant in GRIA2 identified by molecular genet …
Some children present with movement disorders, including chorea, dystonia, and dyskinesia. DIAGNOSIS/TESTING: The diagnosis of GRIA2- …
GRIA2/ENPP3 Regulates the Proliferation and Migration of Vascular Smooth Muscle Cells in the Restenosis Process Post-PTA in Lower Extremity Arteries.
Zhou M, Qi L, Gu Y. Zhou M, et al. Front Physiol. 2021 Aug 24;12:712400. doi: 10.3389/fphys.2021.712400. eCollection 2021. Front Physiol. 2021. PMID: 34504438 Free PMC article.
The regulation of GRIA2 in vascular smooth muscle cells (VSMCs) was confirmed by lentiviral transfection. ...In vitro results showed that the high expression of GRIA2 in VSMCs enhanced the expression of ENPP3, while downregulation of GRIA2 downregulated ENPP3 …
The regulation of GRIA2 in vascular smooth muscle cells (VSMCs) was confirmed by lentiviral transfection. ...In vitro results showed …
Increased mitophagy protects cochlear hair cells from aminoglycoside-induced damage.
Zhang Y, Fang Q, Wang H, Qi J, Sun S, Liao M, Wu Y, Hu Y, Jiang P, Cheng C, Qian X, Tang M, Cao W, Xiang S, Zhang C, Yang J, Gao X, Ying Z, Chai R. Zhang Y, et al. Autophagy. 2023 Jan;19(1):75-91. doi: 10.1080/15548627.2022.2062872. Epub 2022 Apr 26. Autophagy. 2023. PMID: 35471096 Free PMC article.
Importantly, treatment with a mitophagy activator could rescue neomycin-treated hair cells by increasing mitophagy, indicating that genetic modulation or drug intervention in mitophagy may have therapeutic potential for aminoglycoside-induced hearing loss.Abbreviations: AAV: aden …
Importantly, treatment with a mitophagy activator could rescue neomycin-treated hair cells by increasing mitophagy, indicating that genetic …
A gain-of-function GRIA2 variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment.
Coombs ID, Ziobro J, Krotov V, Surtees TL, Cull-Candy SG, Farrant M. Coombs ID, et al. Epilepsia. 2022 Dec;63(12):e156-e163. doi: 10.1111/epi.17419. Epub 2022 Oct 9. Epilepsia. 2022. PMID: 36161652 Free PMC article.
Pathogenic variants of GRIA1-4 have been described in patients with developmental delay, intellectual disability, autism spectrum disorder, and seizures, with GRIA2 variants typically causing AMPAR loss of function. Here, we identify a novel, heterozygous de novo pathogeni …
Pathogenic variants of GRIA1-4 have been described in patients with developmental delay, intellectual disability, autism spectrum disorder, …
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 …
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 …
Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report.
Cai Q, Zhou Z, Luo R, Yu T, Li D, Yang F, Yang Z. Cai Q, et al. BMC Pediatr. 2022 Nov 3;22(1):629. doi: 10.1186/s12887-022-03702-7. BMC Pediatr. 2022. PMID: 36329391 Free PMC article.
CASE PRESENTATION: Here, we report a de novo GRIA2 variant (NM_001083619.3: c.2308G > A, p.Ala770Thr) in a patient with obvious behavior regression and psychiatric symptoms. It encodes GluA2, which is the crucial subunit of the AMPA receptor, and the missense variat …
CASE PRESENTATION: Here, we report a de novo GRIA2 variant (NM_001083619.3: c.2308G > A, p.Ala770Thr) in a patient with obviou …
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 …
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.
Alkelai A, Shohat S, Greenbaum L, Schechter T, Draiman B, Chitrit-Raveh E, Rienstein S, Dagaonkar N, Hughes D, Aggarwal VS, Heinzen EL, Shifman S, Goldstein DB, Kohn Y. Alkelai A, et al. J Hum Genet. 2021 Mar;66(3):339-343. doi: 10.1038/s10038-020-00846-1. Epub 2020 Sep 18. J Hum Genet. 2021. PMID: 32948840
Variant analysis revealed a de novo novel stop gained variant in GRIA2 gene (NM_000826.4: c.1522 G > T (p.Glu508Ter)). GRIA2 encodes for a subunit of the AMPA sensitive glutamate receptor (GluA2) that functions as ligand-gated ion channel in the central nervous s …
Variant analysis revealed a de novo novel stop gained variant in GRIA2 gene (NM_000826.4: c.1522 G > T (p.Glu508Ter)). GRIA2 …
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