Synapse Proteomes and Disease: The MASC Paradigm / Àlex BAYES  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : Synapse Proteomes and Disease: The MASC Paradigm Type de document : Texte imprimé et/ou numérique Auteurs : Àlex BAYES, Auteur ; Seth G. N. GRANT, Auteur Année de publication : 2016 Importance : p.85-99 Langues : Anglais (eng) Mots-clés : Autism  Cognition  Intellectual disability  Learning  MAGUK  MASC  Proteomics  Schizophrenia  Synapse  Synaptopathy Index. décimale : SCI-D SCI-D - Neurosciences Résumé : 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. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00006-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Synapse Proteomes and Disease: The MASC Paradigm [Texte imprimé et/ou numérique] / Àlex BAYES, Auteur ; Seth G. N. GRANT, Auteur . - 2016 . - p.85-99. Langues : Anglais (eng) Mots-clés : Autism  Cognition  Intellectual disability  Learning  MAGUK  MASC  Proteomics  Schizophrenia  Synapse  Synaptopathy Index. décimale : SCI-D SCI-D - Neurosciences Résumé : 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. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00006-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301

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