Article
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Nature genetics - 1 Aug 2018
Schaffer Ashleigh E, Breuss Martin W, Caglayan Ahmet Okay, Al-Sanaa Nouriya, Al-Abdulwahed Hind Y, Kaymakçalan Hande, Yılmaz Cahide, Zaki Maha S, Rosti Rasim O, Copeland Brett, Baek Seung Tae, Musaev Damir, Scott Eric C, Ben-Omran Tawfeg, Kariminejad Ariana, Kayserili Hulya, Mojahedi Faezeh, Kara Majdi, Cai Na, Silhavy Jennifer L, Elsharif Seham, Fenercioglu Elif, Barshop Bruce A, Kara Bulent, Wang Rengang, Stanley Valentina, James Kiely N, Nachnani Rahul, Kalur Aneesha, Megahed Hisham, Incecik Faruk, Danda Sumita, Alanay Yasemin, Faqeih Eissa, Melikishvili Gia, Mansour Lobna, Miller Ian, Sukhudyan Biayna, Chelly Jamel, Dobyns William B, Bilguvar Kaya, Jamra Rami Abou, Gunel Murat, Gleeson Joseph G
Abstract excerpt
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...
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