Ask about this productRelated genes to: GABRA1 antibody
- Gene:
- GABRA1 NIH gene
- Name:
- gamma-aminobutyric acid type A receptor alpha1 subunit
- Previous symbol:
- -
- Synonyms:
- EJM5
- Chromosome:
- 5q34
- Locus Type:
- gene with protein product
- Date approved:
- 1989-06-02
- Date modifiied:
- 2016-02-04
Related products to: GABRA1 antibody
Related articles to: GABRA1 antibody
- Variants in GABA-receptor subunits genes are linked to neurodevelopmental disorders and epilepsy, but genotype-phenotype correlations remain unclear. This study aims to describe the clinical characteristics of children with epilepsy harboring such variants and explore these correlations. - Source: PubMed
Publication date: 2026/06/02
Li QinlanMeng LinxueHong SiqiHu YueLi XiujuanGuo YiJiang LiXie Lingling - Our current project aims to elucidate the impact of advancing date on eggshell quality in Shanma ducks and its underlying mechanisms. A total of 60 healthy Shanma ducks from the youth group (160 days old) and the elderly group (560 days old) were selected to evaluate eggshell physicochemical properties, serum calcium and phosphorus metabolism, gut microbiota, and uterine tissue transcriptomic expressions. Results demonstrated that the elderly group exhibited significantly reduced eggshell thickness and strength, with ultrastructural analysis revealing uneven calcium deposition and a thinner effective layer compared to the youth group. Elderly ducks showed decreased serum levels of 25-hydroxyvitamin D₃, alongside elevated parathyroid hormone and bone remodeling markers (TRAP-5b, BAP), suggesting disrupted calcium metabolism. Histological observation identified duodenal villus atrophy, humeral matrix erosion, and uterine interstitial edema in elderly ducks. Gut microbiome analysis indicated reduced microbial diversity and simplified community structure in elderly ducks, with Helicobacter and Lactobacillus becoming dominant genera, and significant downregulation of mineral absorption-related functional pathways. Uterine transcriptomics identified 607 differentially expressed genes, significantly enriched in pathways such as calcium signaling and steroid hormone biosynthesis. Correlation network analysis further revealed that eggshell strength was closely associated with bone resorption markers, Helicobacter abundance, and the expression of multiple calcium metabolism-related genes (e.g., KCNS2, GABRA1, FOXF1, ATP1B1). Notably, the positive correlation between eggshell strength and SMAD9 observed in the youth group was absent in the elderly group. In conclusion, the age-related decline in eggshell quality results from the combined effects of calcium metabolism imbalance, enhanced bone remodeling, gut microbial dysbiosis, and uterine functional disruption, providing multi-omics insights into the decline of avian reproductive performance with age. - Source: PubMed
Publication date: 2026/05/25
Xiong XihuaiSun HanxueHu ZhengyuTian YongZeng TaoLu LizhiShi FangxiongLi Yansen - The central nervous system responds to acute injury with plastic remodeling of its network. However, the temporal and structural dynamics of this response in the denervated dentate gyrus remain poorly understood. Therefore, we examined the transcriptional programs activated after perforant path transection, focusing on the outer molecular layer (OML) and the granule cell layer (GCL). - Source: PubMed
Publication date: 2026/05/19
Schlaudraff JessicaDel Turco DomenicoKey JanaDeller ThomasAuburger Georg - Disease variants in genes encoding γ-Aminobutyric acid type A receptor (GABA R) subunits are major causes of developmental and epileptic encephalopathies (DEEs). There is no effective treatment for these DEEs although the GABA R is a major target for antiseizure drugs. We previously identified the therapeutic effect of 4-phenyl-butyrate (PBA) in knockin DEE mice and now test the effect of the drug in variants that encode the α1 subunit. We used a multidisciplinary approach including structural modeling, flow cytometry, patch clamp recordings and bio-chemistry in conjunction with differential tagging of the wild-type and the mutant alleles to evaluate the effect of PBA on rescue of GABA R subunit expression, surface trafficking, and function in heterologous HEK293T cell model and in mice. We found that both total and cell surface α1 expression was reduced when the variant α1 protein was present; suggesting reduced functional receptor on the cell membrane and synapse. Patch clamp recordings identified α1 variants reduced GABA-evoked current amplitude. prediction indicated reduced protein stability for variants indicated by negative ΔΔG values. PBA increased both total and surface expression of wildtype α1 and α1 variants; and improved expression of both wildtype and variant α1 alleles when these were co-expressed. Importantly, PBA also increased the GABA R expression in the thalamus of the mice. This study indicates that PBA is a promising treatment option for DEEs associated with mutations. Our previous work has demonstrated that PBA improves proteostasis by enhancing expression of the wildtype allele, repairing the mutant allele, and reducing endoplasmic reticulum stress. Therefore, it can mitigate seizures and improve neurobehavioral phenotypes at behavioral levels. Based on this and our previous work on and mutations, we propose that PBA holds promise as a common medicine for multiple genetic neurologic disorders that share the proteostasis pathology with a broad clinical application in DEEs. - Source: PubMed
Publication date: 2026/05/22
Song Ziang DebbieZavalin KirillShen WangzhenDeLeeuw Melissa BHunn Genevieve XEda Ria SMa LiCarson RobertKang Jing-Qiong - variants are associated with a broad spectrum of epileptic phenotypes ranging from mild idiopathic generalized epilepsy to severe developmental and epileptic encephalopathy (DEE). To date, the majority of the identified variants are missense. Evaluating the pathogenicity of missense variants is a great challenge in genetics. This study aimed to explore reliable biological tools to optimize pathogenic classification of variants, thereby improving precision diagnosis of -associated encephalopathies and epilepsy. - Source: PubMed
Publication date: 2026/05/19
Liu Wen-HuiLi Qiu-LiLi Hai-PengWen Qian-RuZhang Si-QiDing YanMeng Heng