基本信息
浏览量:4
职业迁徙
个人简介
My lab is focused on understanding fundamental mechanisms involved in brain development and brain function with an emphasis on how dysfunction in these mechanisms can result in neurodevelopmental and psychiatric disorders. By focusing on key developmental genes that are associated with psychiatric risk, my research group is both improving our primary understanding of brain development while also making significant inroads into identifying pathophysiological mechanisms underlying psychiatric disorders.
A current focus of my lab is to understand the function of Transcription Factor 4 (TCF4) gene. TCF4 is a clinically pleiotropic gene having association with schizophrenia and autism spectrum disorder (ASD). Autosomal dominant mutations in TCF4 result in Pitt Hopkins syndrome, a rare neurodevelopmental disorder with a variety of symptoms including developmental delays, intellectual disability, absent speech, and breathing abnormalities. My group has shown that TCF4 is an activity-dependent transcription factor that is a critical regulator of cortical development. We have shown that TCF4 regulates several developmental steps including cell fate specification, neuronal migration, cortical column formation, and neuronal excitability.
Recently, my group demonstrated that TCF4 directly regulates oligodendrocyte development and myelination. This work has led to the hypothesis that defects in myelination are a common pathophysiology across the autism spectrum. We are now working on genetic and pharmacological approaches to rescue myelination in PTHS models, with the ultimate goal of applying these therapeutic approaches more broadly to ASD.
A current focus of my lab is to understand the function of Transcription Factor 4 (TCF4) gene. TCF4 is a clinically pleiotropic gene having association with schizophrenia and autism spectrum disorder (ASD). Autosomal dominant mutations in TCF4 result in Pitt Hopkins syndrome, a rare neurodevelopmental disorder with a variety of symptoms including developmental delays, intellectual disability, absent speech, and breathing abnormalities. My group has shown that TCF4 is an activity-dependent transcription factor that is a critical regulator of cortical development. We have shown that TCF4 regulates several developmental steps including cell fate specification, neuronal migration, cortical column formation, and neuronal excitability.
Recently, my group demonstrated that TCF4 directly regulates oligodendrocyte development and myelination. This work has led to the hypothesis that defects in myelination are a common pathophysiology across the autism spectrum. We are now working on genetic and pharmacological approaches to rescue myelination in PTHS models, with the ultimate goal of applying these therapeutic approaches more broadly to ASD.
研究兴趣
论文共 72 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Brittany A. Davis,Huei-Ying Chen,Zengyou Ye,Isaac Ostlund,Madhavi Tippani,Debamitra Das,Srinidhi Rao Sripathy,Yanhong Wang,Jacqueline M. Martin,Gina Shim, Neel M. Panchwagh, Rebecca L. Moses,
FRONTIERS IN CELLULAR NEUROSCIENCE (2024): 1322813-1322813
Joseph Bohlen,Colin Cleary,Debamitra Das,Srinidhi Rao Sripathy,Norah Sadowski,Gina Shim, Rakaia Kenney, Ingrid Buchler, Tapasree Banerji,Thomas Scanlan,Daniel Mulkey,Brady Maher
Science Advancesno. 15 (2023)
Huei-Ying Chen,BaDoi N. Phan,Gina Shim,Gregory R. Hamersky,Norah Sadowski, Thomas S. O'Donnell,Srinidhi Rao Sripathy, Joseph F. Bohlen,Andreas R. Pfenning,Brady J. Maher
MOLECULAR PSYCHIATRYno. 11 (2023): 4679-4692
Biological Psychiatryno. 9 (2023): S216
biorxiv(2022)
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn