Article
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Neuron - 17 Dec 2014
Mishra-Gorur Ketu, Çağlayan Ahmet Okay, Schaffer Ashleigh E, Chabu Chiswili, Henegariu Octavian, Vonhoff Fernando, Akgümüş Gözde Tuğce, Nishimura Sayoko, Han Wenqi, Tu Shu, Baran Burçin, Gümüş Hakan, Dilber Cengiz, Zaki Maha S, Hossni Heba A A, Rivière Jean-Baptiste, Kayserili Hülya, Spencer Emily G, Rosti Rasim Ö, Schroth Jana, Per Hüseyin, Çağlar Caner, Çağlar Çağri, Dölen Duygu, Baranoski Jacob F, Kumandaş Sefer, Minja Frank J, Erson-Omay E Zeynep, Mane Shrikant M, Lifton Richard P, Xu Tian, Keshishian Haig, Dobyns William B, Chi Neil C, Šestan Nenad, Louvi Angeliki, Bilgüvar Kaya, Yasuno Katsuhito, Gleeson Joseph G, Günel Murat
Abstract excerpt
Exome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1...
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