| http://purl.uniprot.org/citations/30013181 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30013181 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30013181 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41588-018-0166-0"xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41588-018-0166-0"xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Wang R."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Wang R."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Chelly J."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Chelly J."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Ben-Omran T."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Ben-Omran T."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Bilguvar K."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Bilguvar K."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Gleeson J.G."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Gleeson J.G."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Gunel M."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Gunel M."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Kara B."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Kara B."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Kara M."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Kara M."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Kayserili H."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Kayserili H."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Mansour L."xsd:string |
| http://purl.uniprot.org/citations/30013181 | http://purl.uniprot.org/core/author | "Mansour L."xsd:string |