Article
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
Human molecular genetics - 15 Sept 2010
Tian Guoling, Jaglin Xavier H, Keays David A, Francis Fiona, Chelly Jamel, Cowan Nicholas J
Abstract excerpt
Malformations of cortical development are characteristic of a plethora of diseases that includes polymicrogyria, periventricular and subcortical heterotopia and lissencephaly. Mutations in TUBA1A and TUBB2B, each a member of the multigene families that encode alpha- and beta-tubulins, have recently been implicated in these diseases. Here we examine the defects that result from nine disease-causing mutations...
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