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Article

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.

International journal of molecular sciences - 18 Feb 2020

Sferra Antonella, Petrini Stefania, Bellacchio Emanuele, Nicita Francesco, Scibelli Francesco, Dentici Maria Lisa, Alfieri Paolo, Cestra Gianluca, Bertini Enrico Silvio, Zanni Ginevra

Abstract excerpt

Tubulinopathies are rare neurological disorders caused by alterations in tubulin structure and function, giving rise to a wide range of brain abnormalities involving neuronal proliferation, migration, differentiation and axon guidance. TUBB is one of the ten β-tubulin encoding genes present in the human genome and is broadly expressed in the developing central nervous system and the skin. Mutations in TUBB are...

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Cell Movement
Epidermal Growth Factor
Microtubules
Nocodazole
Protein Transport

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PMID: 32085672
DOI: 10.3390/ijms21041385
PMCID: PMC7073044

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