Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functions during neurogenesis, neuronal migration, and c...

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Main Authors: Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis, Heather E. Olson, P. Ellen Grant, Richard H. Scott, Neil Stoodley, Julie S. Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M. Palmer-Smith, Hood Mugalaasi, Jonathan G. L. Mullins, Daniela T. Pilz, Andrew E. Fry
Format: Article
Language:English
Published: MDPI AG 2018-08-01
Series:Brain Sciences
Subjects:
TUBA1A
tubulin
p.(Arg2His), R2H
tubulinopathy
polymicrogyria
cerebellar hypoplasia
Online Access:http://www.mdpi.com/2076-3425/8/8/145

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