Ask about this productRelated genes to: TSC1 antibody
- Gene:
- TSC1 NIH gene
- Name:
- TSC complex subunit 1
- Previous symbol:
- TSC
- Synonyms:
- KIAA0243, LAM, hamartin
- Chromosome:
- 9q34
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: TSC1 antibody
Related articles to: TSC1 antibody
- - Source: PubMed
Publication date: 2026/04/16
Orbay MeltemSerin Hepsen MineKanmaz SedaSimsek ErdemIsik EsraAtik TahirCogulu OzgurOzkinay FerdaYilmaz SanemTekgul Hasan - To determine the frequency of pathogenic gene or copy number variants associated with epilepsy or neurodevelopmental disorders in individuals with tuberous sclerosis complex (TSC). - Source: PubMed
Publication date: 2026/04/15
Farach Laura SLeu CostinLal DennisSmith Althea RMontanucci LudovicaRichard Melissa AAu Kit SingNorthrup Hope - Under the context of global climate change, the growing frequency of cyanobacterial blooms has heightened scientific focus on the neurotoxicity of β-N-methylamino-L-alanine (L-BMAA)-an environmental neurotoxin linked to neurodegeneration disorders. However, the precise cellular mechanisms underlying its neurotoxicity remain unclear. In this study, we aimed to elucidate these mechanisms using both in vitro (human SH-SY5Y neuroblastoma cells) and in vivo (zebrafish) models, and utilized transcriptomics, biochemical assays, and behavioral analyses. In vitro studies revealed that L-BMAA enhances oxidative stress, disrupts mitochondrial function, and triggers destructive mitophagy and apoptosis. Transcriptomic (RNA-seq) and proteomic (mass spectrometry) analyses identified apoptosis- and mitochondrial function-related pathways as central targets. Mechanistically, Western blots demonstrated that L-BMAA promotes mitophagy in SH-SY5Y cells by enhancing AMPK-TSC1/2-mTOR signaling while concurrently weakening the Akt-TSC1/2-mTOR axis, a pathway shift validated by specific inhibitor experiments. Consistent with these cellular mechanisms, in vivo results demonstrate that L-BMAA exposure impairs zebrafish learning, spatial memory, and induces anxiety-like behaviors. These behavioral deficits are linked to brain mitochondrial dysfunction and oxidative stress. Furthermore, transcriptomic analysis of zebrafish brain tissue confirmed significant dysregulation of genes involved in mitochondrial function. Overall, our study establishes that mitochondrial dysfunction and exaggerated mitophagy contribute to L-BMAA-induced injury in both zebrafish brains and SH-SY5Y cells, offering a potential therapeutic target for treating therapy-refractory neurodegenerative diseases caused by environmental factors. - Source: PubMed
Publication date: 2026/04/13
Yan TingtingZheng XinyiJia GuangyinLiang ZhenchengGuo LiujunDing FengFang ZhongyuanLi YinanZhao Yan - To identify the features of brain involvement and to characterize the genetic causes of tuberous sclerosis (TS) in patients in the Republic of Bashkortostan. - Source: PubMed
Mustafin R N - Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy and neurological sequelae. Recent evidence suggests that administration of simufilam, a small molecule thought to modulate the function of filamin A, reduces seizure activity independent of mTOR in a mouse model of FCDII. Here, we tested the hypothesis that simufilam treatment reduces seizure activity in a TSC mouse model and characterized its pharmacokinetic (PK) profile in wild-type mice. - Source: PubMed
Publication date: 2026/04/14
Stansley BrandenIslam Md MonirulAguiar Dean JFuchs ZoëCatron MackenzieMorairty StephenYuan YingSantos RadleighHou Jingguode Kater AnneliesThornton George BBordey Angelique