Article
Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment.
Genes - 30 Oct 2021
Vasic Verica, Jones Mattson S O, Haslinger Denise, Knaus Lisa S, Schmeisser Michael J, Novarino Gaia, Chiocchetti Andreas G
Abstract excerpt
Mutations affecting mTOR or RAS signaling underlie defined syndromes (the so-called mTORopathies and RASopathies) with high risk for Autism Spectrum Disorder (ASD). These syndromes show a broad variety of somatic phenotypes including cancers, skin abnormalities, heart disease and facial dysmorphisms. Less well studied are the neuropsychiatric symptoms such as ASD. Here, we assess the relevance of these...
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