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Article

Tubulin mutations in human neurodevelopmental disorders.

Seminars in cell & developmental biology - 15 Mar 2023

Maillard Camille, Roux Charles Joris, Charbit-Henrion Fabienne, Steffann Julie, Laquerriere Annie, Quazza Floriane, Buisson Nadia Bahi

Abstract excerpt

Mutations causing dysfunction of tubulins and microtubule-associated proteins, also known as tubulinopathies, are a group of recently described entities that lead to complex brain malformations. Anatomical and functional consequences of the disruption of tubulins include microcephaly, combined with abnormal corticogenesis due to impaired migration or lamination and abnormal growth cone dynamics of projecting and...

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PMID: 35915025
DOI: 10.1016/j.semcdb.2022.07.009

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