Ask about this productRelated genes to: CYP46A1 antibody
- Gene:
- CYP46A1 NIH gene
- Name:
- cytochrome P450 family 46 subfamily A member 1
- Previous symbol:
- CYP46
- Synonyms:
- -
- Chromosome:
- 14q32.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-08-20
- Date modifiied:
- 2015-12-09
Related products to: CYP46A1 antibody
Related articles to: CYP46A1 antibody
- Epilepsy, particularly drug-resistant epilepsy, remains a significant clinical challenge, with many patients failing to achieve seizure control through conventional antiseizure medications. This unmet need has directed research toward alternative therapeutic targets, including neurosteroid modulation and novel molecular pathways. Soticlestat, a selective inhibitor of cholesterol 24-hydroxylase, is a mechanistically distinct investigational approach to epilepsy treatment by modulating mechanisms beyond those targeted by traditional antiseizure medication. Early-phase clinical trials and preclinical studies demonstrated soticlestat's potential in reducing seizure frequency and highlighted additional benefits related to quality-of-life improvements in epilepsy patients. However, recent Phase III trials in Dravet syndrome and Lennox-Gastaut syndrome reported mixed results. Beyond seizure control, soticlestat mechanism of action may offer neuroprotective effects, potentially addressing neurodegeneration and neuroinflammation associated with chronic epilepsy, which could support improved cognitive outcomes over time. These findings underscore the need for further research to elucidate the long-term benefits and potential synergy of soticlestat in combination with other antiseizure medications across diverse epilepsy syndromes. While challenges remain, soticlestat offers a promising therapeutic avenue for improving outcomes in DRE and warrants continued investigation as a potential adjunctive treatment. - Source: PubMed
Publication date: 2026/04/08
Dell'Isola Giovanni BattistaCosta CinziaTozzi AlessandroRoberti RobertaRusso EmilioFerrara PietroSalpietro VincenzoVerrotti Alberto - There remains a need for new treatments for Lennox-Gastaut syndrome (LGS), a developmental and epileptic encephalopathy with a heterogenous patient population that often requires polytherapy. The phase 3, randomized SKYWAY study (NCT04938427) investigated the efficacy and safety of the cholesterol 24-hydroxylase inhibitor soticlestat (TAK-935) in participants with LGS. - Source: PubMed
Publication date: 2026/03/27
Guerrini RenzoMarsh Eric DLiao Wei-PingImai KatsumiKravljanac RuzicaAltmann AnnaHahn Cecil DAuvin StéphaneSchiemann JimmyKhan YasirMitra PranabSheikh Sarah Ivon Rosenstiel PhilippAsgharnejad MahnazDlugos DennisMurthy Venkatesha - Rett syndrome (RTT) is a neurodevelopmental disorder characterized by motor deficits, partly attributed to cerebellar dysfunction. RTT is primarily caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MECP2), which has been implicated in cholesterol homeostasis by mechanisms that remain poorly understood. Given that brain cholesterol is primarily synthesized de novo and that disrupted cholesterol homeostasis is linked to various neurological disorders, we aimed to investigate cholesterol regulation in the cerebellum of -null mice, a well-established RTT model. We measured total cholesterol levels in cerebellar tissue and cerebellar synaptosomes and assessed the expression of genes involved in cholesterol biosynthesis and intracellular transport. Our results show significantly elevated total cholesterol in both cerebellar tissue and synaptosomes. Furthermore, we identified a marked reduction in expression, which is essential for the elimination of encephalon sterols. In contrast, key cholesterol biosynthetic regulators (, , ) showed no significant changes in expression, suggesting an impaired cerebellar cholesterol turnover-driven by defective clearance-rather than enhanced synthesis may underlie the metabolic imbalance observed in the cerebellum of the RTT mouse model. Altogether, these findings provide a mechanistic insight into how MeCP2 deficiency disrupts cerebellar cholesterol homeostasis and highlight cholesterol clearance pathways as potential contributors to RTT pathology and a factor to consider for further RTT therapeutic approaches. - Source: PubMed
Publication date: 2026/03/03
Tapia Pablo JRivera Bastian IEspinoza C SofíaStolzenbach FranciscaYáñez María JKerr Bredford - Previous studies have shown the metabolic and regulatory significance of CYP46A1 in the adult retina; however, its role in the developing retina is unknown. Here, we evaluate CYP46A1 expression and the impact of its activation in the developing mouse retina under normal and pathological conditions. - Source: PubMed
Publication date: 2026/02/23
Bailey BriahRudd Zhong Manis JosephineSeth GayatriRajpurohit ShubhraOxenrider AllstonMartin Pamela MJadeja Ravirajsinh NThounaojam Menaka C - This study evaluated the efficacy, safety, and tolerability of soticlestat as adjunctive therapy in children and young adults with Dravet syndrome (DS). - Source: PubMed
Publication date: 2026/03/05
Sullivan JosephValente KetteVillanueva VicenteStrzelczyk AdamNabbout RimaNakagawa EijiZhang YuehuaZolnowska MartaKhan YasirDong ChengHsiao SamuelSheikh Sarah Ivon Rosenstiel PhilippAsgharnejad MahnazMurthy Venkatesha