Category Archives: Transient Receptor Potential Channels

´╗┐Supplementary Components1. of in the developing FTI 277 mouse brain led to increased frequency of repetitive movements, seizures, hyperactivity, and impairments in sociability and learning20C22. However, mouse models with gain-of-function mutations in failed to recapitulate the central nervous system (CNS) structural defects found in CFC subjects23, 24 and led to embryonic lethality or overall reduced viability. Human induced pluripotent stem cells (iPSCs) have proven to comprise a successful platform that allows for the direct examination of human neuronal development25C31. Our recent studies on another RASopathy, Costello syndrome32, 33, indicated that an activating mutation in led to an extended progenitor phase and subsequent increase in the number of cortical neurons33 as well as excessive astrocyte-to-neuron signaling32, all of which correlated with the progressive postnatal brain overgrowth in Costello syndrome34. Because Ras/MAPK signaling controls differentiation in most tissues, we hypothesized that this gain-of-function p.Q257R mutation would affect neuronal maturation. We generated iPSC…

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