STAINING BATH SET
- Known as:
- STAINING BATH SET
- Catalog number:
- hsb
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Hellabio
- Gene target:
- STAINING BATH SET
Ask about this productRelated genes to: STAINING BATH SET
- 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
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0.75 mm Dual Gel Cast Set Related articles to: STAINING BATH SET
- 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 - Preclinical studies and early clinical trials suggest phenylbutyrate (an FDA and European Medicines Agency-approved medication for urea cycle disorders) may improve seizure control in certain developmental and epileptic encephalopathies (DEEs). Its effect on development is unknown, and comorbidities like hypotonia may raise toxicity risks. This study examines early clinical experiences with phenylbutyrate in children with DEEs, outside the context of a clinical trial. - Source: PubMed
Publication date: 2026/06/20
Barbour KristenStӧdberg TommyLarsson AnnaDahlin MariaGrinspan Zachary M - Monogenic epilepsies are 1.6 times more likely to be treatment-resistant compared to other epilepsies, emphasizing the need for additional therapeutic strategies. Sleep dysfunction beyond sleep-related breathing disorders is common yet insufficiently characterized and treated in monogenic epilepsies. We therefore sought to study sleep phenotypes across these epilepsies, examine associations with seizure severity, and assess the diagnostic rate of sleep disorders. From 2,519 individuals enrolled in the Epilepsy Genetics Research Project at Children's Hospital of Philadelphia, we identified the monogenic epilepsies most frequently associated with sleep-related diagnoses, yielding 252 individuals across nine genetic diagnoses ( , 79; , 57; , 34; , 21; , 14; , 13; , 13; , 11; , 10). Monogenic epilepsies exhibited distinct sleep endophenotypes, including insomnia, parasomnia, and sleep-related movement disorders in -related disorders; frequent epileptiform discharges in sleep with insomnia symptoms in -related disorders; sleep dysfunction restricted to the developmental and epileptic encephalopathy subtype in -related disorders; and insomnia without nocturnal seizure involvement in -related disorders. Formal sleep diagnoses were present in only 25% of individuals (63/252), yet 58% (145/252) reported sleep difficulties, suggesting substantial underdiagnosis. Persistent seizures were associated with higher odds of sleep disorder diagnoses ( 2.87, 1.57-5.36), disrupted sleep architecture ( 2.06, 1.08-4.16), nocturnal seizures ( 4.47, 2.50-8.28), hypersomnolence ( 2.38, 1.27-4.58) and insomnia ( 1.80, 1.06-3.05). Neuropsychiatric comorbidities were independently associated with sleep burden after adjustment for seizure severity ( 2.49, 1.40-4.49). We find that monogenic epilepsies exhibit distinct, gene-specific sleep endophenotypes that are underdiagnosed. Treating sleep difficulties beyond obstructive sleep apnoea may improve seizure control and developmental outcomes, highlighting the need for timely diagnosis of co-occurring sleep disorders. - Source: PubMed
Publication date: 2026/06/29
Bochtler Katharina SBatterman Alexander IKoh Hyun YongKessler RileyEsparza ChristineShon JoyKaufman Michael CHelbig IngoCuddapah Vishnu Anand - 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: 2026/06/19
Delahanty Aiden JamesJames KaitlinGrace EmmaSong Ziasng DebbieWang JuexinBassette MelissaKang Jing-Qiong