Abstract.
Proper human brain formation is dependent upon the integrated activity of multiple genes. Malfunctioning of key proteins results in brain developmental abnormalities. Mutation(s) in the LIS1 gene or the X-linked gene doublecortin (DCX) results in a spectrum of disorders including lissencephaly, or ‘smooth brain’, and subcortical band heterotopia, or ‘doublecortex’. Here, we will focus on a particular subset of missense mutations in these two genes and their effect on protein structure and function.
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Received 4 August 2004; received after revision 26 September 2004; accepted 5 October 2004
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Reiner, O., Coquelle, F.M. Missense mutations resulting in type 1 lissencephaly. CMLS, Cell. Mol. Life Sci. 62, 425–434 (2005). https://doi.org/10.1007/s00018-004-4344-0
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DOI: https://doi.org/10.1007/s00018-004-4344-0