Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

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...

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Veröffentlicht in:	Neuron (Cambridge, Mass.) Mass.), 2014-12, Vol.84 (6), p.1226-1239
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - genetics Animals Brain - abnormalities Brain - growth & development Brain - pathology Cell Count Cell Division - genetics Danio rerio Dendrites - genetics Drosophila Drosophila Proteins - genetics Humans Katanin Mice Microcephaly - genetics Microcephaly - pathology Microtubule-Associated Proteins - genetics Mutation Neural Stem Cells - pathology Neurogenesis - genetics Optic Lobe, Nonmammalian - abnormalities Spindle Apparatus - genetics Zebrafish
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