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...

Descripción completa

Detalles Bibliográficos
Autores principales: Gardner, Jennifer F., Cushion, Thomas D., Niotakis, Georgios, Olson, Heather E., Grant, P. Ellen, Scott, Richard H., Stoodley, Neil, Cohen, Julie S., Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila M., Mugalaasi, Hood, Mullins, Jonathan G. L., Pilz, Daniela T., Fry, Andrew E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119949/
https://www.ncbi.nlm.nih.gov/pubmed/30087272
http://dx.doi.org/10.3390/brainsci8080145

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119949/
https://www.ncbi.nlm.nih.gov/pubmed/30087272
http://dx.doi.org/10.3390/brainsci8080145

Ejemplares similares