WATER BATH 5 LITRES 100
- Known as:
- WATER BATH 5 LITRES 100
- Catalog number:
- TBN-06/100
- Category:
- -
- Supplier:
- SBS
- Gene target:
- WATER BATH 5 LITRES 100
Related genes to: WATER BATH 5 LITRES 100
- Gene:
- SLC6A1 NIH gene
- Name:
- solute carrier family 6 member 1
- Previous symbol:
- -
- Synonyms:
- GAT1, GABATR, GABATHG
- Chromosome:
- 3p25.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-02-16
- Date modifiied:
- 2016-02-17
Related products to: WATER BATH 5 LITRES 100
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- Pathogenic variants in SLC6A1, which encodes the γ-aminobutyric acid (GABA) transporter GAT-1, cause developmental and epileptic encephalopathies (DEEs) through reduced GABA uptake, impaired transporter trafficking, and functional haploinsufficiency. 4-phenylbutyrate (PBA) is a clinically available small molecule with chemical-chaperone and histone-deacetylase-inhibitor activities that can rescue misfolded GABAergic proteins, but variant-level rescue data are needed to guide precision treatment. - Source: PubMed
Publication date: 2026/08/21
Delahanty Aiden JamesJames KaitlinCarter Emma GraceSong Ziang DebbieWang JuexinBassette MelissaKang Jing-Qiong - Orofacial neuropathic pain (ONP) is a common complication following nerve injury driven by peripheral mechanisms. N-methyl-D-aspartate receptors (NMDARs), particularly NR2A and NR2B, are involved in pain processing in the trigeminal ganglion (TG), but their downstream pathways in ONP remain unclear. Here, chronic constriction injury of the infraorbital nerve (CCI-ION) was established in wild-type mice and in mice with TG-targeted adeno-associated virus-mediated conditional deletion of NR2A or NR2B. CCI-ION upregulated NR2A and NR2B in the TG, as verified by quantitative reverse transcription-polymerase chain reaction, Western blot, and immunofluorescence, with increased immunoreactivity in both TG neurons and satellite glial cells (SGCs). Conditional deletion of either subunit attenuated CCI-ION-induced mechanical hypersensitivity. Molecular analyses showed that these subunits were preferentially associated with distinct transcriptional modules: following CCI-ION, NR2A deletion counteracted the suppression of Cyp1a1, Cyp2e1, and Zfp593, whereas NR2B deletion counteracted the upregulation of Slc6a1 and Tlr2 and the downregulation of Cacna1g. N-methyl-D-aspartate (NMDA) stimulation and subsequent NR2A or NR2B knockdown by siRNA produced directionally consistent changes in Neuro-2a cells and primary TG-derived SGCs. Kinase-inhibitor profiling in Neuro-2a cells revealed distinct response patterns. Local pharmacological induction of CYP2E1 or inhibition of TLR2 or SLC6A1 in the TG attenuated CCI-ION-induced mechanical hypersensitivity. Overall, peripheral NMDAR signaling following CCI-ION is associated with subunit-specific transcriptional modules involving both neuronal and glial compartments. These findings identify candidate molecular targets for ONP. - Source: PubMed
Publication date: 2026/08/25
Song Qin-XuanCen Yue-YanDai Meng-FeiGao Xin-LinLiu FeiChen Jun-YuLi Chun-JieZhou ChengZhang Yan-YanShen Jie-Fei - Disease variants in genes encoding γ-aminobutyric acid type A receptor (GABAR) subunits are major causes of developmental and epileptic encephalopathies (DEEs). There is no effective treatment for these DEEs, although the GABAR is a major target for antiseizure drugs. We previously identified the therapeutic effect of 4-phenylbutyrate (PBA) in knockin DEE mice and in this study tested the effect of the drug in variants that encode the α1 subunit of GABAR. We used a multidisciplinary approach including in silico structural modeling, flow cytometry, patch-clamp recordings and biochemistry in conjunction with differential tagging of the wildtype (WT) and the mutant alleles to evaluate the effect of PBA on rescue of GABAR subunit expression, surface trafficking, and function in vitro in a heterologous HEK293T cell model and in vivo in mice. We found that the α1 subunit expression at both the total level and the cell surface was reduced when the variant α1 protein was present, suggesting reduced functional receptor availability on the cell membrane and synapse. Patch-clamp recordings identified that α1 variants reduced GABA-evoked current amplitude. In silico prediction indicated reduced protein stability for variants by negative ∆∆G values. PBA increased both total and surface expression of WT α1 and α1 variants and improved expression of both WT and variant α1 alleles when these were co-expressed. Importantly, PBA also increased the GABAR expression in the cortex and 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 WT allele, repairing the mutant allele, and reducing endoplasmic reticulum stress in other DEEs associated with and mutations. Importantly, 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: 2026/07/24
Song Ziang DebbieZavalin KirillShen WangzhenDeLeeuw Melissa BHunn Genevieve XEda Ria SMa LiWang JuexinKang Jing-Qiong - The primary control mechanism for synaptic uptake of GABA is through γ-aminobutyric acid transporter 1 (GAT-1, SLC6A1), a known target for anti-epileptic drugs. Although there is a clinically used GAT-1 inhibitor, tiagabine, the development of a new ligand with an advanced pharmacological profile is desirable. For this purpose, a multi-tiered virtual approach to screening has been created, involving pharmacophore-based search; application of the Informational Spectrum Method for Small Molecules, followed by EIIP/AQVN filtering (ISM-SM); molecular docking using an ensemble of several experimentally obtained structures of GAT-1; and ADMET predictions. Pharmacophore-based screening of the ZINC database of natural products, combined with ISM-SM/EIIP filtering, yielded 237 candidate compounds. Structural separation analysis discriminated between the positives and negatives, enabling enrichment-based prioritization. The use of a composite normalized rank score based on docking affinity and structural similarity allowed for the identification of the top candidates: ZINC03643214 and ZINC67840571. Collectively, these refinements establish a more sophisticated computational model for identifying novel GAT-1 inhibitors and highlight promising candidates for future experimental evaluation. - Source: PubMed
Publication date: 2026/06/29
Stevanovic KristinaPerovic VladimirGlisic SanjaSencanski Milan - The mechanistic effects of genetic variants underlying genetic neurodevelopmental disorders (NDDs) are widely studied, but the contribution of external factors remains largely unexplored. - Source: PubMed
Publication date: 2026/07/18
Boßelmann Christian MLudwig Natasha NHolingue CalliopeJimenez-Gomez AndresGanna AndreaPerry M ScottArenivas AnaLal Dennis