| Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants. | Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M, Quindipan C, Saitta S, Ladda RL, Hewson S, Inbar-Feigenberg M, Prasad C, Prasad AN, Olewiler L, Mu W, Rosenthal LS, Scala M, Striano P, Zara F, McCullock TW, Jauss RT, Lemke JR, MacLean DM, Zhu C, Yuan H, Myers SJ, Traynelis SF., Free PMC Article | 02/12/2024 |
| Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect. | Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.
Grigorenko AP, Protasova MS, Lisenkova AA, Reshetov DA, Andreeva TV, Garcias GL, Martino Roth MDG, Papassotiropoulos A, Rogaev EI., Free PMC Article | 04/16/2022 |
| Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. | Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
Ceylan AC, Acar Arslan E, Erdem HB, Kavus H, Arslan M, Topaloğlu H. | 02/26/2022 |
| Association of Gene Variations in Ionotropic Glutamate Receptor and Attention-Deficit/Hyperactivity Disorder in the Chinese Population: A Two-Stage Case-Control Study. | Association of Gene Variations in Ionotropic Glutamate Receptor and Attention-Deficit/Hyperactivity Disorder in the Chinese Population: A Two-Stage Case-Control Study.
Zhang Q, Huang X, Chen XZ, Li SY, Yao T, Wu J. | 08/14/2021 |
| Report on a consanguineous family with autosomal recessive childhood onset of cerebellar ataxia and delayed psychomotor development. Using whole exome sequencing we identified a novel homozygous missense variant [c.2128C > T, p.(Arg710Trp)] in GRID2 that segregates with the disease. The missense variant is located in a conserved region encoding the extracellular serine-binding domain of the GluD2 protein. | Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
Ali Z, Zulfiqar S, Klar J, Wikström J, Ullah F, Khan A, Abdullah U, Baig S, Dahl N., Free PMC Article | 12/16/2017 |
| GRID2 gene can be a suppressor in TNF-induced neurodegeneration which may help to understand the main factors leading to autism. | Potential of GRID2 receptor gene for preventing TNF-induced neurodegeneration in autism.
Kalkan Z, Durasi İM, Sezerman U, Atasever-Arslan B. | 07/29/2017 |
| Glutamate system genes including have been associated with disease risk in recent analyses from the Psychiatric Genomics Consortium. | Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes.
Stevenson JM, Reilly JL, Harris MS, Patel SR, Weiden PJ, Prasad KM, Badner JA, Nimgaonkar VL, Keshavan MS, Sweeney JA, Bishop JR., Free PMC Article | 10/22/2016 |
| findings suggest a possible role of GRID2 in the susceptibility to develop mevalonate kinase deficiency. GRID2 gene associated with MKD: The rs1450500 SNP was differently distributed in patients with MKD with respect to those with recurrent fever. | GRID2 a novel gene possibly associated with mevalonate kinase deficiency.
Moura R, Tricarico PM, Campos Coelho AV, Crovella S. | 02/27/2016 |
| We demonstrated for the first time GRID2 expression and localization in human and murine retina, providing evidence for a novel functional role of GRID2 in the retina. | Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, De Baere E. | 12/19/2015 |
| GRID2 point mutations: cerebellar ataxia is the core phenotype, but with variable severity ranging from very mild adult-onset to congenital-onset linked to both the heterozygous and homozygous state of the variant, and the position of the mutation. | GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A. | 07/25/2015 |
| GluD2 gating is triggered by type 1 metabotropic glutamate receptors. | Type 1 metabotropic glutamate receptors (mGlu1) trigger the gating of GluD2 delta glutamate receptors.
Ady V, Perroy J, Tricoire L, Piochon C, Dadak S, Chen X, Dusart I, Fagni L, Lambolez B, Levenes C., Free PMC Article | 08/30/2014 |
| GRID2 mutations are associated with a recessive syndrome causing cerebellar ataxia and eye movement abnormalities. | Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH., Free PMC Article | 05/17/2014 |
| Tests for gene-environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers | Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.
Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I., Free PMC Article | 08/31/2013 |
| Glutamate receptor delta2 is involved in a common mechanism that restricts the number of synaptic AMPA receptors at parallel fiber synapses in cerebellar Purkinje cells. | Glutamate receptor δ2 is essential for input pathway-dependent regulation of synaptic AMPAR contents in cerebellar Purkinje cells.
Yamasaki M, Miyazaki T, Azechi H, Abe M, Natsume R, Hagiwara T, Aiba A, Mishina M, Sakimura K, Watanabe M., Free PMC Article | 05/14/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol.
Giegling I, Drago A, Dolžan V, Plesničar BK, Schäfer M, Hartmann AM, Sander T, Toliat MR, Möller HJ, Stassen HH, Rujescu D, Serretti A. | 12/5/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | A whole genome association study of mother-to-child transmission of HIV in Malawi.
Joubert BR, Lange EM, Franceschini N, Mwapasa V, North KE, Meshnick SR, NIAID Center for HIV/AIDS Vaccine Immunology., Free PMC Article | 06/30/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| The carboxy terminus of transgenic GluRdelta2 conveys the signal(s) necessary for long-term depression induction and motor learning. | Differential regulation of synaptic plasticity and cerebellar motor learning by the C-terminal PDZ-binding motif of GluRdelta2.
Kakegawa W, Miyazaki T, Emi K, Matsuda K, Kohda K, Motohashi J, Mishina M, Kawahara S, Watanabe M, Yuzaki M., Free PMC Article | 01/21/2010 |
| Thus, phosphorylation of -2T and/or -1S of GluRdelta2 C-terminus by PKA may regulate the binding of GluRdelta2 to its scaffolding protein, Delphilin. | Binding of glutamate receptor delta2 to its scaffold protein, Delphilin, is regulated by PKA.
Sonoda T, Mochizuki C, Yamashita T, Watanabe-Kaneko K, Miyagi Y, Shigeri Y, Yazama F, Okuda K, Kawamoto S. | 01/21/2010 |