Article
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Human molecular genetics - 15 Dec 2012
Cederquist Gustav Y, Luchniak Anna, Tischfield Max A, Peeva Maya, Song Yuyu, Menezes Manoj P, Chan Wai-Man, Andrews Caroline, Chew Sheena, Jamieson Robyn V, Gomes Lavier, Flaherty Maree, Grant Patricia Ellen, Gupta Mohan L, Engle Elizabeth C
Abstract excerpt
Microtubules are essential components of axon guidance machinery. Among β-tubulin mutations, only those in TUBB3 have been shown to cause primary errors in axon guidance. All identified mutations in TUBB2B result in polymicrogyria, but it remains unclear whether TUBB2B mutations can cause axon dysinnervation as a primary phenotype. We have identified a novel inherited heterozygous missense mutation in TUBB2B that...
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