Rosina casserly biography channels

The canonical RAS/RAF/MEK/ERK1/2 intracellular kinase cascade is a ubiquitous pathway activated by a wide array of extracellular signals (Lavoie et al., 2020). Mutations in Receptor Tyrosine Kinase (RTK)-associated effectors and upstream regulators of Extracellular Regulated Kinase (ERK1/2, aka MAPK3/1) signaling cause a family of developmental syndromes collectively termed the “RASopathies” (Rauen, 2013). Individuals with RASopathies frequently exhibit craniofacial abnormalities, cardiac malformations, and increased cancer risk, in addition to neurological conditions such as epilepsy, developmental delay, intellectual disability, and autism (Tidyman & Rauen, 2016). Most RASopathy mutations increase ERK1/2 signaling, however, microdeletions that disrupt Erk1 or Erk2 expression have been linked to neurocognitive delay, intellectual disability, and autism (Ben-Shachar et al., 2008; Fernandez et al., 2010; Linhares et al., 2016; Newbern et al., 2008; Nowaczyk et al., 2014; Pucilowska et al., 2015; Rauen, 2013; Saitta et al., 2004; Samuels et al., 2009; Sánchez et al., 2020). Moreover, ERK1/2 signaling is a point of functional convergence for several autism and schizophrenia-associated copy number variants (Blizinsky et al., 2016; Courchesne et al., 2020; Heavn

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