paperKB
coga / coga-kb
Processing
Help
Sign in

Chunk #1 — 1. Genetic mutations implicated in ASDs

Source
Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links.
Embedded
yes

Text

other cases, mutations that likely disrupt protein function are found in genes that are implicated in other neuropsychiatric disorders. Functional annotation of these genes immediately suggests the following molecular features: 1) neuronal ion channels and receptors; 2) synapse-related cytoskeleton and scaffolding proteins; 3) epigenetic and transcriptional regulators; 4) post-translational protein modifiers and regulators. An important question is whether or not the mutations in these genes share a common molecular and/or circuit-level mechanism underlying the pathophysiology of ASDs. Modeling these mutations in animal models is essential to address this question.