Abstract
The synapse is composed of ∼2000 proteins, and mutations and genetic variants in these proteins result in a large number of disorders, collectively known as synaptopathies. A major subset of synapse proteins assemble with membrane-associated guanylate kinase (MAGUK) proteins into multiprotein complexes known as MAGUK-associated signaling complexes (MASCs). In total, 145 MASC genes have been related to 197 nervous system conditions. Cognitive behavioral disorders are prominent among these disorders, especially intellectual disability, autism, and schizophrenia. An extensive body of literature in mice has also demonstrated that mutations in MAGUK proteins result in cognitive impairments. Here we provide a detailed analysis of the genetic basis of MASC diseases. These comprehensive studies of synapse complexes and their roles in disease are a general paradigm linking proteomics, genetics, and molecular machines to brain disease.
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