Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

doi:10.1002/humu.20572

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Article

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Human mutation - 1 Nov 2007

Poirier Karine, Keays David A, Francis Fiona, Saillour Yoann, Bahi Nadia, Manouvrier Sylvie, Fallet-Bianco Catherine, Pasquier Laurent, Toutain Annick, Tuy Françoise Phan Dinh, Bienvenu Thierry, Joriot Sylvie, Odent Sylvie, Ville Dorothée, Desguerre Isabelle, Goldenberg Alice, Moutard Marie-Laure, Fryns Jean-Pierre, van Esch Hilde, Harvey Robert J, Siebold Christian, Flint Jonathan, Beldjord Chérif, Chelly Jamel

Abstract excerpt

We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a hyperactive N-ethyl-N-nitrosourea (ENU) induced mouse mutant with abnormal lamination of the hippocampus. Neuroanatomical similarities between the Tuba1a mutant mouse and mice deficient for Doublecortin (Dcx) and Lis1 genes, and the well-established functional interaction between DCX and microtubules (MTs), led us...

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PMID: 17584854
DOI: 10.1002/humu.20572

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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