DC Field | Value | Language |
---|---|---|
dc.contributor.author | BAEK, SEUNG TAE | - |
dc.contributor.author | Wendy Wenderski | - |
dc.contributor.author | Lu Wang | - |
dc.contributor.author | Andrey Krokhotin | - |
dc.contributor.author | Jessica J Walsh | - |
dc.contributor.author | Hongjie Li | - |
dc.contributor.author | Hirotaka Shoji | - |
dc.contributor.author | Shereen Ghosh | - |
dc.contributor.author | Renee D George | - |
dc.contributor.author | Erik L Miller | - |
dc.contributor.author | Laura Elias | - |
dc.contributor.author | Mark A Gillespie | - |
dc.contributor.author | Esther Y Son | - |
dc.contributor.author | Brett T Staahl | - |
dc.contributor.author | Valentina Stanley | - |
dc.contributor.author | Cynthia Moncada | - |
dc.contributor.author | Zohar Shipony | - |
dc.contributor.author | Sara B Linker | - |
dc.contributor.author | Maria C N Marchetto | - |
dc.contributor.author | Fred H Gage | - |
dc.contributor.author | Dillon Chen | - |
dc.contributor.author | Tipu Sultan | - |
dc.contributor.author | Maha S Zaki | - |
dc.contributor.author | Jeffrey A Ranish | - |
dc.contributor.author | Tsuyoshi Miyakawa | - |
dc.contributor.author | Liqun Luo | - |
dc.contributor.author | Robert C Malenka | - |
dc.contributor.author | Gerald R Crabtree | - |
dc.contributor.author | Joseph G Gleeson | - |
dc.date.accessioned | 2020-08-05T06:50:50Z | - |
dc.date.available | 2020-08-05T06:50:50Z | - |
dc.date.created | 2020-07-21 | - |
dc.date.issued | 2020-05 | - |
dc.identifier.issn | 0027-8424 | - |
dc.identifier.uri | https://oasis.postech.ac.kr/handle/2014.oak/103950 | - |
dc.description.abstract | Autism is a complex neurodevelopmental disorder whose causative mechanisms are unclear. Taking advantage of a unique cohort with recessively inherited autism, we identified six families with biallelic mutation of the neuronal-specific subunit of the BAF complex, ACTL6B (also known as BAF53b). Relative to all other genes, ACTL6B was the most statistically significant mutated gene in the recessive autism cohort. We describe autism-relevant phenotypes in human brain organoids and in mouse and fly models. We foresee the outcomes from this study will be the following: 1) a link between neuronal activity-dependent transcriptional repression and autism; 2) a characterization of mouse and fly models to study ACTL6B mutant autism; and 3) an understanding the role of ACTL6B and nBAF complexes in neuronal transcriptional regulation. | - |
dc.language | English | - |
dc.publisher | United States National Academy of Sciences | - |
dc.relation.isPartOf | Proceedings of the National Academy of Sciences of the United States of America | - |
dc.title | Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. | - |
dc.type | Article | - |
dc.identifier.doi | 10.1073/pnas.1908238117 | - |
dc.type.rims | ART | - |
dc.identifier.bibliographicCitation | Proceedings of the National Academy of Sciences of the United States of America, v.117, no.18, pp.10055 - 10066 | - |
dc.identifier.wosid | 000531067600057 | - |
dc.citation.endPage | 10066 | - |
dc.citation.number | 18 | - |
dc.citation.startPage | 10055 | - |
dc.citation.title | Proceedings of the National Academy of Sciences of the United States of America | - |
dc.citation.volume | 117 | - |
dc.contributor.affiliatedAuthor | BAEK, SEUNG TAE | - |
dc.identifier.scopusid | 2-s2.0-85085094560 | - |
dc.description.journalClass | 1 | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.type.docType | Article | - |
dc.subject.keywordPlus | CHROMATIN REMODELING COMPLEX | - |
dc.subject.keywordPlus | OF-FUNCTION MUTATIONS | - |
dc.subject.keywordPlus | DE-NOVO MUTATIONS | - |
dc.subject.keywordPlus | SPECTRUM DISORDER | - |
dc.subject.keywordPlus | MOSAIC MUTATIONS | - |
dc.subject.keywordPlus | MEMORY | - |
dc.subject.keywordPlus | MICE | - |
dc.subject.keywordPlus | LEAD | - |
dc.subject.keywordPlus | TRANSCRIPTION | - |
dc.subject.keywordPlus | PREVALENCE | - |
dc.subject.keywordAuthor | autism | - |
dc.subject.keywordAuthor | mouse model | - |
dc.subject.keywordAuthor | recessive | - |
dc.subject.keywordAuthor | BAF | - |
dc.subject.keywordAuthor | activity dependent | - |
dc.relation.journalWebOfScienceCategory | Multidisciplinary Sciences | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.
library@postech.ac.kr Tel: 054-279-2548
Copyrights © by 2017 Pohang University of Science ad Technology All right reserved.