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The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation

Heterozygous, missense mutations in both α- and β-tubulin genes have been linked to an array of neurodevelopment disorders, commonly referred to as “tubulinopathies.” To date, tubulinopathy mutations have been identified in three β-tubulin isotypes and one α-tubulin isotype. These mutations occur th...

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Detalles Bibliográficos
Autores principales: Hoff, Katelyn J., Neumann, Andrew J., Moore, Jeffrey K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666403/
https://www.ncbi.nlm.nih.gov/pubmed/36406756
http://dx.doi.org/10.3389/fncel.2022.1023267