Synapse Proteomes and Disease: The MASC Paradigm

àlex Bayés; Seth G.N. Grant

doi:10.1016/B978-0-12-800109-7.00006-6

Synapse Proteomes and Disease: The MASC Paradigm

àlex Bayés, Seth G.N. Grant

Research output: Chapter in Book › Chapter › Research › peer-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 language	English
Title of host publication	Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability
Pages	85-99
Number of pages	14
DOIs	https://doi.org/10.1016/B978-0-12-800109-7.00006-6
Publication status	Published - 17 May 2016

Keywords

Autism
Cognition
Intellectual disability
Learning
MAGUK
MASC
Proteomics
Schizophrenia
Synapse
Synaptopathy

Access to Document

10.1016/B978-0-12-800109-7.00006-6

Cite this

@inbook{a091996abe3e40068f916a6115bbe004,

title = "Synapse Proteomes and Disease: The MASC Paradigm",

abstract = "{\textcopyright} 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.",

keywords = "Autism, Cognition, Intellectual disability, Learning, MAGUK, MASC, Proteomics, Schizophrenia, Synapse, Synaptopathy",

author = "{\`a}lex Bay{\'e}s and Grant, {Seth G.N.}",

year = "2016",

month = may,

day = "17",

doi = "10.1016/B978-0-12-800109-7.00006-6",

language = "English",

isbn = "9780128005330",

pages = "85--99",

booktitle = "Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability",

}

TY - CHAP

T1 - Synapse Proteomes and Disease: The MASC Paradigm

AU - Bayés, àlex

AU - Grant, Seth G.N.

PY - 2016/5/17

Y1 - 2016/5/17

N2 - © 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.

AB - © 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.

KW - Autism

KW - Cognition

KW - Intellectual disability

KW - Learning

KW - MAGUK

KW - MASC

KW - Proteomics

KW - Schizophrenia

KW - Synapse

KW - Synaptopathy

U2 - 10.1016/B978-0-12-800109-7.00006-6

DO - 10.1016/B978-0-12-800109-7.00006-6

M3 - Chapter

SN - 9780128005330

SN - 9780128001097

SP - 85

EP - 99

BT - Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

ER -

Synapse Proteomes and Disease: The MASC Paradigm

Abstract

Keywords

Access to Document

Fingerprint

Cite this