Article
Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS.
The Journal of biological chemistry - 23 Dec 2016
Yap Chan Choo, Digilio Laura, McMahon Lloyd, Roszkowska Matylda, Bott Christopher J, Kruczek Kamil, Winckler Bettina
Abstract excerpt
Doublecortin on the X-chromosome (DCX) is a neuronal microtubule-binding protein with a multitude of roles in neurodevelopment. In humans, DCX is a major genetic locus for X-linked lissencephaly. The best studied defects are in neuronal migration during corticogenesis and in the hippocampus, as well as axon and dendrite growth defects. Much effort has been directed at understanding the molecular and cellular...
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