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2022 2
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Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M, Candelas Serra M, Abdel Rahman F, Dobrovolski M, Kuchtiak V, Abramova V, Fili K, Tomovic E, Hrcka Krausova B, Krusek J, Cerny J, Vyklicky L, Balik A, Smejkalova T. Korinek M, et al. Physiol Res. 2024 May 31;73(Suppl 1):S413-S434. doi: 10.33549/physiolres.935346. Epub 2024 May 31. Physiol Res. 2024. PMID: 38836461 Free PMC article. Review.
N-methyl-D-aspartate receptors (NMDARs) are a subtype of ionotropic glutamate receptors critical for synaptic transmission and plasticity, and for the development of neural circuits. ...Here we review the current literature on the functional evaluation …
N-methyl-D-aspartate receptors (NMDARs) are a subtype of ionotropic glutamate receptors critical for synaptic tr …
Epigenetics in Learning and Memory.
van Zundert B, Montecino M. van Zundert B, et al. Subcell Biochem. 2025;108:51-71. doi: 10.1007/978-3-031-75980-2_2. Subcell Biochem. 2025. PMID: 39820860 Review.
But what are the molecular mechanisms that govern the expression of immediate-early genes (IEGs; c-fos, Npas4) and plasticity-related genes (PRGs; Dlg4/PSD95 and Grin2b/NR2B) in memory ensemble? Studies in relatively simple in vitro and in vivo neuronal model systems have …
But what are the molecular mechanisms that govern the expression of immediate-early genes (IEGs; c-fos, Npas4) and plasticity-related genes …
Opioids and autism spectrum disorder: liaisons dangereuses?
Vutskits L. Vutskits L. Br J Anaesth. 2023 Apr;130(4):393-395. doi: 10.1016/j.bja.2023.01.003. Epub 2023 Feb 6. Br J Anaesth. 2023. PMID: 36754706 Free article.
A recent laboratory study in the Journal examined the effects of repeated exposures of neonatal mice to fentanyl on autism-like behaviour via opioid receptor-mediated DNA hypermethylation of the Grin2B gene, which encodes the GluN2B subunit of the NMDA rec …
A recent laboratory study in the Journal examined the effects of repeated exposures of neonatal mice to fentanyl on autism-like behaviour vi …
Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.
Gjerulfsen CE, Krey I, Klöckner C, Rubboli G, Lemke JR, Møller RS. Gjerulfsen CE, et al. Methods Mol Biol. 2024;2799:1-11. doi: 10.1007/978-1-0716-3830-9_1. Methods Mol Biol. 2024. PMID: 38727899 Review.
Pathogenic variants in the Glutamate receptor Ionotropic N-methyl-D-aspartate (GRIN) genes (GRIN1, GRIN2A-D) encoding NMDAR subunits have been associated with a wide spectrum of neurodevelopmental disorders and epilepsies ranging from treatable focal epilepsi …
Pathogenic variants in the Glutamate receptor Ionotropic N-methyl-D-aspartate (GRIN) genes (GRIN1, GRIN2A-D) encoding N …
Motor phenotypes associated with genetic neurodevelopmental disorders.
Santana Almansa A, Snyder LG, Chung WK, Bain JM, Srivastava S. Santana Almansa A, et al. Ann Clin Transl Neurol. 2024 Dec;11(12):3238-3245. doi: 10.1002/acn3.52231. Epub 2024 Nov 2. Ann Clin Transl Neurol. 2024. PMID: 39487960 Free PMC article.
Disorders associated with Vineland-II motor standard score <56 included GRIN2B-related disorder (mean standard score = 53.5), HNRNPH2-related disorder (mean standard score = 55.8) and SCN2A-related disorder (mean standard score = 49.9). ...
Disorders associated with Vineland-II motor standard score <56 included GRIN2B-related disorder (mean standard score = 53.5), HNRN …
Associative gene networks reveal novel candidates important for ADHD and dyslexia comorbidity.
Hongyao HE, Chun JI, Xiaoyan G, Fangfang L, Jing Z, Lin Z, Pengxiang Z, Zengchun L. Hongyao HE, et al. BMC Med Genomics. 2023 Sep 4;16(1):208. doi: 10.1186/s12920-023-01502-1. BMC Med Genomics. 2023. PMID: 37667328 Free PMC article.
Among the top 20 genes with the highest priority DRD2, DRD4, CNTNAP2 and GRIN2B are mentioned in the literature as directly linked with the comorbidity of ADHD and dyslexia. ...
Among the top 20 genes with the highest priority DRD2, DRD4, CNTNAP2 and GRIN2B are mentioned in the literature as directly linked wi …
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C, Kessi M, Liu F, He F, Peng J. Xie C, et al. Orphanet J Rare Dis. 2025 Oct 27;20(1):541. doi: 10.1186/s13023-025-04055-x. Orphanet J Rare Dis. 2025. PMID: 41146259 Free PMC article.
BACKGROUND: Pathogenic variants in GRIN2B are predominantly associated with neurodevelopmental disorders (NDDs). However, our understanding of the genotype-phenotype correlations and the optimal treatment strategies is limited. ...CONCLUSIONS: This study reports five novel …
BACKGROUND: Pathogenic variants in GRIN2B are predominantly associated with neurodevelopmental disorders (NDDs). However, our underst …
Single-locus and Haplotype Associations of GRIN2B Gene with Autism Spectrum Disorders and the Demographic and Clinical Characteristics of Patients in Guilan, Iran.
Pouyan Mehr D, Faraji N, Rezaei S, Keshavarz P. Pouyan Mehr D, et al. J Autism Dev Disord. 2024 Feb;54(2):607-614. doi: 10.1007/s10803-022-05818-2. Epub 2022 Nov 18. J Autism Dev Disord. 2024. PMID: 36399225
The present study aimed to investigate the association of three GRIN2B polymorphisms, including rs1019385, rs1024893, and rs3764028, with ASDs. Based on the results, there was a significant difference regarding the genotype frequency of rs3764028 polymorphism between the c …
The present study aimed to investigate the association of three GRIN2B polymorphisms, including rs1019385, rs1024893, and rs3764028, …
Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission.
Santos-Gómez A, Juliá-Palacios N, Rejano-Bosch A, Marí-Vico R, Miguez-Cabello F, Masana M, Soto D, Olivella M, García-Cazorla À, Altafaj X. Santos-Gómez A, et al. J Inherit Metab Dis. 2025 Mar;48(2):e70015. doi: 10.1002/jimd.70015. J Inherit Metab Dis. 2025. PMID: 40024627 Free PMC article.
Functionally, the putative therapeutic benefit of spermidine (spermine precursor) was assessed in constitutive Grin2b(+/-) heterozygous mice, a GRIN2B-LoF genetic murine model recapitulating GRD-like synaptic, motor, and cognitive alterations. Chronic spermidine adm …
Functionally, the putative therapeutic benefit of spermidine (spermine precursor) was assessed in constitutive Grin2b(+/-) heterozygo …
Rescuing tri-heteromeric NMDA receptor function: the potential of pregnenolone-sulfate in loss-of-function GRIN2B variants.
Kellner S, Berlin S. Kellner S, et al. Cell Mol Life Sci. 2024 May 25;81(1):235. doi: 10.1007/s00018-024-05243-x. Cell Mol Life Sci. 2024. PMID: 38795169 Free PMC article.
N-methyl-D-aspartate receptors (NMDARs emerging from GRIN genes) are tetrameric receptors that form diverse channel compositions in neurons, typically consisting of two GluN1 subunits combined with two GluN2(A-D) subunits. ...Notably, we provide an initial and cruci …
N-methyl-D-aspartate receptors (NMDARs emerging from GRIN genes) are tetrameric receptors that form diverse channel compositio …
53 results