Article
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Human molecular genetics - 15 Jul 2010
Kumar Ravinesh A, Pilz Daniela T, Babatz Timothy D, Cushion Thomas D, Harvey Kirsten, Topf Maya, Yates Laura, Robb Stephanie, Uyanik Gökhan, Mancini Gracia M S, Rees Mark I, Harvey Robert J, Dobyns William B
Abstract excerpt
We previously showed that mutations in LIS1 and DCX account for approximately 85% of patients with the classic form of lissencephaly (LIS). Some rare forms of LIS are associated with a disproportionately small cerebellum, referred to as lissencephaly with cerebellar hypoplasia (LCH). Tubulin alpha1A (TUBA1A), encoding a critical structural subunit of microtubules, has recently been implicated in LIS. Here, we...
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