Article
A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.
Molecular biology of the cell - 1 Mar 2008
Tian Guoling, Kong Xiang-Peng, Jaglin Xavier H, Chelly Jamel, Keays David, Cowan Nicholas J
Abstract excerpt
The agyria (lissencephaly)/pachygyria phenotypes are catastrophic developmental diseases characterized by abnormal folds on the surface of the brain and disorganized cortical layering. In addition to mutations in at least four genes--LIS1, DCX, ARX and RELN--mutations in a human alpha-tubulin gene, TUBA1A, have recently been identified that cause these diseases. Here, we show that one such mutation, R264C, leads...
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