Synapse Proteomes and Disease: The MASC Paradigm

àlex Bayés, Seth G.N. Grant

    Research output: Chapter in BookChapterResearchpeer-review

    Abstract

    © 2016 Elsevier Inc. All rights reserved. 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.
    Original languageEnglish
    Title of host publicationNeuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability
    Pages85-99
    Number of pages14
    DOIs
    Publication statusPublished - 17 May 2016

    Keywords

    • Autism
    • Cognition
    • Intellectual disability
    • Learning
    • MAGUK
    • MASC
    • Proteomics
    • Schizophrenia
    • Synapse
    • Synaptopathy

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  • Cite this

    Bayés, À., & Grant, S. G. N. (2016). Synapse Proteomes and Disease: The MASC Paradigm. In Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability (pp. 85-99) https://doi.org/10.1016/B978-0-12-800109-7.00006-6