DC Field | Value | Language |
---|---|---|
dc.contributor.author | Seung Tae Baek | - |
dc.contributor.author | Ashleigh E. Schaffer | - |
dc.contributor.author | Martin W. Breuss | - |
dc.contributor.author | Ahmet Okay Caglayan | - |
dc.contributor.author | Nouriya Al-Sanaa | - |
dc.contributor.author | Hind Y. Al-Abdulwahed | - |
dc.contributor.author | Hande Kaymakçalan | - |
dc.contributor.author | Cahide Yılmaz | - |
dc.contributor.author | Maha S. Zaki | - |
dc.contributor.author | Rasim O. Rosti | - |
dc.contributor.author | Brett Copeland | - |
dc.contributor.author | Damir Musaev | - |
dc.contributor.author | Eric C. Scott | - |
dc.contributor.author | Tawfeg Ben-Omran | - |
dc.contributor.author | Ariana Kariminejad | - |
dc.contributor.author | Hulya Kayserili | - |
dc.contributor.author | Faezeh Mojahedi | - |
dc.contributor.author | Majdi Kara | - |
dc.contributor.author | Na Cai | - |
dc.contributor.author | Jennifer L. Silhavy | - |
dc.contributor.author | Seham Elsharif | - |
dc.contributor.author | Elif Fenercioglu | - |
dc.contributor.author | Bruce A. Barshop | - |
dc.contributor.author | Bulent Kara | - |
dc.contributor.author | Rengang Wang | - |
dc.contributor.author | Valentina Stanley | - |
dc.contributor.author | Kiely N. James | - |
dc.contributor.author | Rahul Nachnani | - |
dc.contributor.author | Aneesha Kalur | - |
dc.contributor.author | Hisham Megahed | - |
dc.contributor.author | Faruk Incecik | - |
dc.contributor.author | Sumita Danda | - |
dc.contributor.author | Yasemin Alanay | - |
dc.contributor.author | Eissa Faqeih | - |
dc.contributor.author | Gia Melikishvili | - |
dc.contributor.author | Lobna Mansour | - |
dc.contributor.author | Ian Miller | - |
dc.contributor.author | Biayna Sukhudyan | - |
dc.contributor.author | Jamel Chelly | - |
dc.contributor.author | William B. Dobyns | - |
dc.contributor.author | Kaya Bilguvar | - |
dc.contributor.author | Rami Abou Jamra | - |
dc.contributor.author | Murat Gunel | - |
dc.contributor.author | Joseph G. Gleeson | - |
dc.date.accessioned | 2018-12-04T01:52:57Z | - |
dc.date.available | 2018-12-04T01:52:57Z | - |
dc.date.created | 2018-11-29 | - |
dc.date.issued | 2018-08 | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.uri | https://oasis.postech.ac.kr/handle/2014.oak/94282 | - |
dc.description.abstract | Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, encoding αN-catenin, in patients with a distinct recessive form of pachygyria. CTNNA2 was expressed in human cerebral cortex, and its loss in neurons led to defects in neurite stability and migration. The αN-catenin paralog, αE-catenin, acts as a switch regulating the balance between β-catenin and Arp2/3 actin filament activities1. Loss of αN-catenin did not affect β-catenin signaling, but recombinant αN-catenin interacted with purified actin and repressed ARP2/3 actin-branching activity. The actin-binding domain of αN-catenin or ARP2/3 inhibitors rescued the neuronal phenotype associated with CTNNA2 loss, suggesting ARP2/3 de-repression as a potential disease mechanism. Our findings identify CTNNA2 as the first catenin family member with biallelic mutations in humans, causing a new pachygyria syndrome linked to actin regulation, and uncover a key factor involved in ARP2/3 repression in neurons. | - |
dc.language | English | - |
dc.publisher | NATURE PUBLISHING GROUP | - |
dc.relation.isPartOf | NATURE GENETICS | - |
dc.title | Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. | - |
dc.type | Article | - |
dc.identifier.doi | 10.1038/s41588-018-0166-0 | - |
dc.type.rims | ART | - |
dc.identifier.bibliographicCitation | NATURE GENETICS, v.50, no.8, pp.1093 - 1101 | - |
dc.identifier.wosid | 000440423400008 | - |
dc.citation.endPage | 1101 | - |
dc.citation.number | 8 | - |
dc.citation.startPage | 1093 | - |
dc.citation.title | NATURE GENETICS | - |
dc.citation.volume | 50 | - |
dc.contributor.affiliatedAuthor | Seung Tae Baek | - |
dc.identifier.scopusid | 2-s2.0-85049956123 | - |
dc.description.journalClass | 1 | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | N | - |
dc.type.docType | Article | - |
dc.subject.keywordPlus | ACTIN CYTOSKELETON | - |
dc.subject.keywordPlus | BETA-CATENIN | - |
dc.subject.keywordPlus | CEREBELLAR | - |
dc.subject.keywordPlus | DEFECTS | - |
dc.subject.keywordPlus | PROTEIN | - |
dc.subject.keywordPlus | HOMOZYGOSITY | - |
dc.subject.keywordPlus | INHIBITION | - |
dc.subject.keywordPlus | FEATURES | - |
dc.subject.keywordPlus | BINDING | - |
dc.subject.keywordPlus | MODEL | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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