Ask about this productRelated genes to: TBC1D24 antibody
- Gene:
- TBC1D24 NIH gene
- Name:
- TBC1 domain family member 24
- Previous symbol:
- DFNB86
- Synonyms:
- KIAA1171, TLDC6, DFNA65
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2006-04-07
- Date modifiied:
- 2015-11-18
Related products to: TBC1D24 antibody
Related articles to: TBC1D24 antibody
- - Source: PubMed
Publication date: 2026/04/02
Xiang SongyangFei LuLi Tingsong - Dravet syndrome (DS) is a developmental and epileptic encephalopathy caused mainly by SCN1A variants, several other genes have been implicated in DS-like phenotype. - Source: PubMed
Publication date: 2026/01/30
Tian XiaojuanCheng MiaomiaoYang YingZeng QiChen YiLiu AijieYang XiaolingZhang JingTan QuanzhenLiu WenweiWang TingOuyang ShijiaLiu ChanghaoWu YeJiang YuwuZhang Yuehua - Hearing loss (HL) is one of the most common sensorineural disorders, affecting 5% of the world's population. Despite advances in next-generation sequencing (NGS) platforms, the diagnosis of HL remains challenging because of its vast genetic heterogeneity. This study aimed to improve the diagnosis of HL through re-evaluation and new Exome Sequencing (ES) of undiagnosed Iranian HL families. - Source: PubMed
Publication date: 2025/12/18
Rezvandeh Raziye RezvaniKazemi NegarAshrafi Farzane ZareShokouhian EbrahimBolghanabadi ZahraOmrani Mohammad AminEdizadeh MasoudKahrizi KimiaNajmabadi HosseinMohseni Marzieh - Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24-related disorders. - Source: PubMed
Publication date: 2025/11/10
Mondragon EalingMagielski Jan HBane BintouNolan JoeyLynnRuggiero Sarah MArmstrong DallasArnold SusanSirsi DeepaHelbig IngoMcKee Jillian L - Synaptojanin1 is a presynaptic phosphoinositide phosphatase that harbors two catalytic domains: an N-terminal suppressor of actin 1-like (Sac1) domain that predominantly dephosphorylates PI(3)P and PI(4)-P and a central 5-phosphatase (5-PPase) domain that dephosphorylates PI-(4,5)-P and PI-(3,4,5)-P. While loss-of-function mutations in Synaptojanin1 are associated with epilepsy and Parkinson's disease, inhibition of the 5-phosphatase activity of Synaptojanin1 was identified as a potential therapeutic approach for Alzheimer's disease, Down syndrome, and TBC1D24-associated epilepsy. However, the high conservation of active site residues among the different human 5-phosphatases has hampered the identification of Synaptojanin1-selective inhibitors. Here, we identified epigallocatechin monogallate and gambogic acid as inhibitors of the Synaptojanin1 5-phosphatase activity via a combination of high-throughput screening and structure-based virtual screening. While epigallocatechin monogallate shows promiscuous inhibition of all tested human 5-phosphatase, gambogic acid is selective for Synatojanin1. Correspondingly, kinetic analysis demonstrates that gambogic acid acts as a potent ( = 0.51 μM) noncompetitive Synaptojanin1 inhibitor, suggesting that it targets a less conserved allosteric pocket rather than the active site. Together, these findings propose gambogic acid as a promising lead compound for the development of new selective inhibitors of Synaptojanin1. - Source: PubMed
Publication date: 2025/05/12
Martin EllaGiakoumakis DanaëPaesmans JoneBisi NicolòDrozdzecki AndrzejAudenaert DominiqueHaustraete JurgenVerstreken PatrikGalicia ChristianBallet StevenVersées Wim