Study on mechanisms underlying autism spectrum disorders using TBR1-K228E miceTBR1-K228E 돌연변이 생쥐를 이용한 자폐 발병 기전 연구

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dc.contributor.advisorKim, Eunjoon-
dc.contributor.advisor김은준-
dc.contributor.authorYook, Chaehyun-
dc.date.accessioned2021-05-12T19:40:25Z-
dc.date.available2021-05-12T19:40:25Z-
dc.date.issued2020-
dc.identifier.urihttp://library.kaist.ac.kr/search/detail/view.do?bibCtrlNo=909395&flag=dissertationen_US
dc.identifier.urihttp://hdl.handle.net/10203/284168-
dc.description학위논문(박사) - 한국과학기술원 : 생명과학과, 2020.2,[iii, 88 p. :]-
dc.description.abstractAutism spectrum disorder, characterized by impaired social interaction and communication, and stereotyped- and repetitive behaviors, is a neurodevelopmental disorder with strong genetic components. Among many high-risk genes implicated, T-box brain 1 (TBR1) has been reported to be mutated recurrently in patients with ASD. One of the mutations, TBR1-K228E, has been shown to impair subcellular localization of TBR1 protein and abolish the interaction with FOXP2, a transcription factor involved in brain development, in vitro, but impacts of this mutation in vivo have been largely unknown. In this study, we generated mice with TBR1-K228E knock-in mutation and characterized the mice in transcriptome-, protein-, synaptic-, cellular-, behavioral levels to provide an insight for pathophysiological mechanisms of TBR1-K228E mutation in ASD patients. TBR1-K228E mice showed transcriptional dysregulation during cortical development, which led to increased inhibitory synaptic inputs in cortical layer 6 pyramidal neurons, altered distribution of Parvalbumin-positive interneurons in the neocortex, and autism-like behaviors.-
dc.languageeng-
dc.publisher한국과학기술원-
dc.subjectautism spectrum disorder▼aTbr1▼atranscription factor▼acortical development▼aGABAergic neurons▼asynaptic transmission▼asocial and repetitive behavior-
dc.subject자폐증 스펙트럼 장애▼aTbr1▼a전사인자▼a피질 발생▼aGABA 생산 신경세포▼a시냅스 전달▼a사회적 행동과 반복 행동-
dc.titleStudy on mechanisms underlying autism spectrum disorders using TBR1-K228E mice-
dc.title.alternativeTBR1-K228E 돌연변이 생쥐를 이용한 자폐 발병 기전 연구-
dc.typeThesis(Ph.D)-
dc.identifier.CNRN325007-
dc.description.department한국과학기술원 :생명과학과,-
dc.contributor.alternativeauthor육채현-
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