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275 results

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Page 1
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Ismail V, Zachariassen LG, Godwin A, Sahakian M, Ellard S, Stals KL, Baple E, Brown KT, Foulds N, Wheway G, Parker MO, Lyngby SM, Pedersen MG, Desir J, Bayat A, Musgaard M, Guille M, Kristensen AS, Baralle D. Ismail V, et al. Am J Hum Genet. 2022 Jul 7;109(7):1217-1241. doi: 10.1016/j.ajhg.2022.05.009. Epub 2022 Jun 7. Am J Hum Genet. 2022. PMID: 35675825 Free PMC article.
AMPA receptors (AMPARs) are homo- or heteromeric protein complexes with four subunits, each encoded by different genes, GRIA1 to GRIA4. Although GluA1-containing AMPARs have a crucial role in brain function, the human phenotype associated with deleterious GRIA1 sequ …
AMPA receptors (AMPARs) are homo- or heteromeric protein complexes with four subunits, each encoded by different genes, GRIA1 to GRIA …
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
Tvergaard NK, Tkemaladze T, Stödberg T, Kvarnung M, Tatton-Brown K, Baralle D, Tümer Z, Bayat A. Tvergaard NK, et al. Clin Genet. 2024 Oct;106(4):427-436. doi: 10.1111/cge.14577. Epub 2024 Jun 18. Clin Genet. 2024. PMID: 38890806
AMPARs are intricate assemblies of subunits encoded by four paralogous genes: GRIA1-4. Functional studies have established that rare GRIA variants can alter AMPAR currents leading to a loss- or gain-of-function. ...We deep-phenotyped a cohort comprising eight unrelated chi …
AMPARs are intricate assemblies of subunits encoded by four paralogous genes: GRIA1-4. Functional studies have established that rare …
Sevoflurane Preconditioning Downregulates GRIA1 Expression to Attenuate Cerebral Ischemia-Reperfusion-Induced Neuronal Injury.
Li Y, Liang Z, Lei S, Wu X, Yuan T, Ma K, Chi K. Li Y, et al. Neurotox Res. 2023 Feb;41(1):29-40. doi: 10.1007/s12640-022-00620-5. Epub 2023 Jan 3. Neurotox Res. 2023. PMID: 36595163
Sev pretreatment reduced the surface expression of glutamate receptor 1 (GRIA1) in neurons, while GRIA1 reduced the neuroprotective effects of Sev pretreatment in vitro and in vivo. ...Together, Sev might exert beneficial effects on cerebral I/R-induced neuronal inj …
Sev pretreatment reduced the surface expression of glutamate receptor 1 (GRIA1) in neurons, while GRIA1 reduced the neuroprote …
Association of GRIA1 polymorphisms with ovarian response to human menopausal gonadotropin in Iranian women.
Golestanpour H, Javadi G, Sheikhha MH. Golestanpour H, et al. Clin Exp Reprod Med. 2020 Sep;47(3):207-212. doi: 10.5653/cerm.2020.03370. Epub 2020 Aug 24. Clin Exp Reprod Med. 2020. PMID: 32829568 Free PMC article.
Few studies have investigated the association between the GRIA1 gene and human infertility. This study evaluated the association of the GRIA1 rs548294 C > T and rs2195450 G > A polymorphisms with the ovarian response to human menopausal gonadotropin (HMG) in I …
Few studies have investigated the association between the GRIA1 gene and human infertility. This study evaluated the association of t …
What causes aberrant salience in schizophrenia? A role for impaired short-term habituation and the GRIA1 (GluA1) AMPA receptor subunit.
Barkus C, Sanderson DJ, Rawlins JN, Walton ME, Harrison PJ, Bannerman DM. Barkus C, et al. Mol Psychiatry. 2014 Oct;19(10):1060-70. doi: 10.1038/mp.2014.91. Epub 2014 Sep 16. Mol Psychiatry. 2014. PMID: 25224260 Free PMC article. Review.
The GRIA1 locus, encoding the GluA1 (also known as GluRA or GluR1) AMPA glutamate receptor subunit, shows genome-wide association to schizophrenia. As well as extending the evidence that glutamatergic abnormalities have a key role in the disorder, this finding draws attent …
The GRIA1 locus, encoding the GluA1 (also known as GluRA or GluR1) AMPA glutamate receptor subunit, shows genome-wide association to …
Review of pharmacogenetics studies of L-asparaginase hypersensitivity in acute lymphoblastic leukemia points to variants in the GRIA1 gene.
Lopez-Santillan M, Iparraguirre L, Martin-Guerrero I, Gutierrez-Camino A, Garcia-Orad A. Lopez-Santillan M, et al. Drug Metab Pers Ther. 2017 Mar 1;32(1):1-9. doi: 10.1515/dmpt-2016-0033. Drug Metab Pers Ther. 2017. PMID: 28259867 Free article. Review.
In this review we have summarized the results of those studies which describe the involvement of four different genes, being polymorphisms in the glutamate receptor, ionotropic, AMPA 1 (GRIA1) the most frequently associated with asparaginase hypersensitivity. We also point …
In this review we have summarized the results of those studies which describe the involvement of four different genes, being polymorphisms i …
Case-control study of GRIA1 and GRIA3 gene variants in migraine.
Fang J, An X, Chen S, Yu Z, Ma Q, Qu H. Fang J, et al. J Headache Pain. 2015;17:2. doi: 10.1186/s10194-016-0592-2. Epub 2016 Jan 22. J Headache Pain. 2015. PMID: 26800698 Free PMC article.
METHODS: A Han-Chinese case-control population, including 331 unrelated female migraine patients and 330 matched controls, was studied. Variants in genes (GRIA1 and GRIA3) were genotyped by Multiplex SNaPshot assay. RESULTS: In the group of patients, the frequency of allel …
METHODS: A Han-Chinese case-control population, including 331 unrelated female migraine patients and 330 matched controls, was studied. Vari …
The Traf2 and NcK interacting kinase inhibitor NCB-0846 suppresses seizure activity involving the decrease of GRIA1.
Wang M, Gu Y, Li Q, Feng B, Lv X, Zhang H, Kong Q, Dong Z, Tian X, Zhang Y. Wang M, et al. Genes Dis. 2023 Jun 24;11(3):100997. doi: 10.1016/j.gendis.2023.03.036. eCollection 2024 May. Genes Dis. 2023. PMID: 38292191 Free PMC article.
Co-IP showed that TNIK might correlate with endogenous GRIA1, SYN2, PSD-95, CaMKIV, GABRG1, and GABRG2. In addition, the significant decrease in GRIA1 in hippocampal total lysate and PSDs after NCB-0846 treatment might help modify the progression of PTZ kindling. .. …
Co-IP showed that TNIK might correlate with endogenous GRIA1, SYN2, PSD-95, CaMKIV, GABRG1, and GABRG2. In addition, the significant …
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.
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca …
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. Gl …
Genome-wide Mendelian randomization identifies actionable novel drug targets for psychiatric disorders.
Liu J, Cheng Y, Li M, Zhang Z, Li T, Luo XJ. Liu J, et al. Neuropsychopharmacology. 2023 Jan;48(2):270-280. doi: 10.1038/s41386-022-01456-5. Epub 2022 Sep 16. Neuropsychopharmacology. 2023. PMID: 36114287 Free PMC article.
We also identified 10 actionable drug targets by using brain proteome data, including 4 (HLA-DRB1, CAMKK2, P2RX7, and MAPK3) for schizophrenia, 1 (PRKCB) for bipolar disorder, 6 (PSMB4, IMPDH2, SERPINC1, GRIA1, P2RX7 and TAOK3) for depression. Of note, MAPK3 and HLA-DRB1 w …
We also identified 10 actionable drug targets by using brain proteome data, including 4 (HLA-DRB1, CAMKK2, P2RX7, and MAPK3) for schizophren …
275 results