한빛사논문
- 조회718
Jeffrey J Moffat1, Amanda L Smith2, Eui-Man Jung3, Minhan Ka4, Woo-Yang Kim5
1Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
2Developmental Neuroscience, University of Nebraska Medical Center, Omaha, NE, USA.
3Department of Molecular Biology, College of Natural Sciences, Pusan National University, Busan, Republic of Korea.
4Research Center for Substance Abuse Pharmacology, Korea Institute of Toxicology, Daejeon, Republic of Korea.
5Department of Biological Sciences, Kent State University, Kent, OH, USA. wkim2@kent.edu.
Correspondence to Woo-Yang Kim.
Abstract
ARID1B haploinsufficiency is a frequent cause of intellectual disability (ID) and autism spectrum disorder (ASD), and also leads to emotional disturbances. In this review, we examine past and present clinical and preclinical research into the neurobiological function of ARID1B. The presentation of ARID1B-related disorders (ARID1B-RD) is highly heterogeneous, including varying degrees of ID, ASD, and physical features. Recent research includes the development of suitable clinical readiness assessments for the treatment of ARID1B-RD, as well as similar neurodevelopmental disorders. Recently developed mouse models of Arid1b haploinsufficiency successfully mirror many of the behavioral phenotypes of ASD and ID. These animal models have helped to solidify the molecular mechanisms by which ARID1B regulates brain development and function, including epigenetic regulation of the Pvalb gene and promotion of Wnt/β-catenin signaling in neural progenitors in the ventral telencephalon. Finally, preclinical studies have identified the use of a positive allosteric modulator of the GABAA receptor as an effective treatment for some Arid1b haploinsufficiency-related behavioral phenotypes, and there is potential for the refinement of this therapy in order to translate it into clinical use.
논문정보
- Review Paper
- 2021년 03월 (BRIC 등록일 2021-03-12)
- 국내+국외 연구진
- 생명과학 > 신경생물학
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