The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Mutations in alpha-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans.

The development of the mammalian brain is dependent on extensive neuronal migration. Mutations in mice and humans that affect neuronal migration result in abnormal lamination of brain structures with associated behavioral deficits. Here, we report the identification of a hyperactive N-ethyl-N-nitrosourea (ENU)-induced mouse mutant with abnormalities in the laminar architecture of the hippocampus and cortex, accompanied by impaired neuronal migration. We show that the causative mutation lies in the guanosine triphosphate (GTP) binding pocket of alpha-1 tubulin ( Tuba1) and affects tubulin heterodimer formation. Phenotypic similarity with existing mouse models of lissencephaly led us to screen a cohort of patients with developmental brain anomalies. We identified two patients with de novo mutations in TUBA3, the human homolog of Tuba1. This study demonstrates the utility of ENU mutagenesis in the mouse as a means to discover the basis of human neurodevelopmental disorders.[1]

References

  1. Mutations in alpha-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans. Keays, D.A., Tian, G., Poirier, K., Huang, G.J., Siebold, C., Cleak, J., Oliver, P.L., Fray, M., Harvey, R.J., Moln??r, Z., Pi??on, M.C., Dear, N., Valdar, W., Brown, S.D., Davies, K.E., Rawlins, J.N., Cowan, N.J., Nolan, P., Chelly, J., Flint, J. Cell (2007) [Pubmed]
 
WikiGenes - Universities