BOD1 Is Required for Cognitive Function in Humans and Drosophila
Abstract
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 chromosome segregation, regulating phosphorylation of PLK1 substrates by modulating Protein Phosphatase 2A (PP2A) activity during mitosis. We report that...
Paper Details
Title
BOD1 Is Required for Cognitive Function in Humans and Drosophila
Published Date
May 11, 2016
Journal
Volume
12
Issue
5
Pages
e1006022 - e1006022
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