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    Trends Genet. 2009 Dec;25(12):555-66. Epub 2009 Oct 26.

    Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects.

    Jaglin XH, Chelly J.

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    Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris, France.

    Abstract

    The fine tuning of proliferation and neurogenesis, neuronal migration and differentiation and connectivity underlies the proper development of the cerebral cortex. Mutations in genes involved in these processes are responsible for neurodevelopmental disorders, such as cortical dysgeneses, which are usually associated with severe mental retardation and epilepsy. Over the past few years, the importance of cytoskeleton components in cellular processes crucial for cortical development has emerged from a body of functional data. This was reinforced by the association of mutations in the LIS1 and DCX genes, which both encode proteins involved in microtubule (MT) homeostasis, with cerebral cortex developmental disorders. The recent discovery of patients with lissencephaly and bilateral asymmetrical polymicrogyria (PMG) carrying mutations in the alpha- and beta-tubulin-encoding genes TUBA1A and TUBB2B further supports this view, and also raises interesting questions about the specific roles played by certain tubulin isotypes during the development of the cortex.

    PMID:
    19864038
    [PubMed - indexed for MEDLINE]

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