Article
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
American journal of human genetics - 1 Nov 2009
Abdollahi Mohammad R, Morrison Ewan, Sirey Tamara, Molnar Zoltan, Hayward Bruce E, Carr Ian M, Springell Kelly, Woods C Geoff, Ahmed Mushtaq, Hattingh Louise, Corry Peter, Pilz Daniela T, Stoodley Neil, Crow Yanick, Taylor Graham R, Bonthron David T, Sheridan Eamonn
Abstract excerpt
The critical importance of cytoskeletal function for correct neuronal migration during development of the cerebral cortex has been underscored by the identities of germline mutations underlying a number of human neurodevelopmental disorders. The proteins affected include TUBA1A, a major alpha-tubulin isoform, and microtubule-associated components such as doublecortin, and LIS1. Mutations in these genes are...
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