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Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations

Mutations in the family of genes encoding the tubulin subunits of microtubules are associated with a spectrum of human brain malformations known as tubulinopathies. How these mutations impact tubulin activity to give rise to distinct developmental consequences is poorly understood. Here we report tw...

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Detalles Bibliográficos
Autores principales: Park, Kristen, Hoff, Katelyn J., Wethekam, Linnea, Stence, Nicholas, Saenz, Margarita, Moore, Jeffrey K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8637541/
https://www.ncbi.nlm.nih.gov/pubmed/34869359
http://dx.doi.org/10.3389/fcell.2021.765992