Article

Tubulinopathy mutations in TUBA1A that disrupt neuronal morphogenesis and migration override XMAP215/Stu2 regulation of microtubule dynamics

2021-12-07

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<h4>ABSTRACT</h4> Heterozygous, missense mutations in α- or β-tubulin genes are associated with a wide range of human brain malformations, known as tubulinopathies. We seek to understand whether a mutation’s impact at the molecular and cellular levels scale with the severity of brain malformation. Here we focus on two mutations at the valine 409 residue of TUBA1A, V409I and V409A, identified in patients with pach...

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Literature Corpus work: 40ea093a-81a4-5628-a291-0c2822339cd9
DOI: 10.1101/2021.12.06.471490

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Tubulinopathy mutations in <i>TUBA1A</i> that disrupt neuronal morphogenesis and migration override XMAP215/Stu2 regulation of microtubule dynamics

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