Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination


Park et al. demonstrate that brain somatic mutations in MTOR result in defective neuronal ciliogenesis in FMCDs. The aberrant accumulation of OFD1 by impaired autophagy is responsible for defective ciliogenesis. Moreover, defective ciliogenesis accounts for cortical dyslamination in FMCDs by compromising Wnt signals.


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