Pathogenic SYNGAP1 mutations impair cognitive development by disrupting the maturation of dendritic spine synapses

Mutations that cause Intellectual Disability (ID) and Autism Spectrum Disorder (ASD) are commonly found in genes that encode for synaptic proteins. However, it remains unclear how mutations that disrupt synapse function impact intellectual ability. In the SYNGAP1 mouse model of ID/ASD, we found that...

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Detalhes bibliográficos
Main Authors: Clement, James P., Aceti, Massimiliano, Creson, Thomas K., Ozkan, Emin D., Shi, Yulin, Reish, Nicholas J., Almonte, Antoine G., Miller, Brooke H., Wiltgen, Brian J., Miller, Courtney A., Xu, Xiangmin, Rumbaugh, Gavin
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3500766/
https://ncbi.nlm.nih.gov/pubmed/23141534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2012.08.045
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