BOD1 Is Required for Cognitive Function in Humans and Drosophila.

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or protein. The BOD1 protein is required for proper chro...

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Main Authors: Sahar Esmaeeli-Nieh, Michaela Fenckova, Iain M Porter, M Mahdi Motazacker, Bonnie Nijhof, Anna Castells-Nobau, Zoltan Asztalos, Robert Weißmann, Farkhondeh Behjati, Andreas Tzschach, Ute Felbor, Harry Scherthan, Seyed Morteza Sayfati, H Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Jason R Swedlow, Annette Schenck, Andreas W Kuss
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-05-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006022&type=printable
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https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006022&type=printable

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