PT  - JOURNAL ARTICLE
AU  - Maria Chahrour
AU  - Brian J. O'Roak
AU  - Emanuela Santini
AU  - Rodney C. Samaco
AU  - Robin J. Kleiman
AU  - M. Chiara Manzini
TI  - Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy
AID  - 10.1523/JNEUROSCI.2335-16.2016
DP  - 2016 Nov 09
TA  - The Journal of Neuroscience
PG  - 11402--11410
VI  - 36
IP  - 45
4099  - http://www.jneurosci.org/content/36/45/11402.short
4100  - http://www.jneurosci.org/content/36/45/11402.full
SO  - J. Neurosci.2016 Nov 09; 36
AB  - Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with high heritability and both phenotypic and genetic heterogeneity. To date, mutations in hundreds of genes have been associated to varying degrees with increased ASD risk. A better understanding of the functions of these genes and whether they fit together in functional groups or impact similar neuronal circuits is needed to develop rational treatment strategies. We will review current areas of emphasis in ASD research, starting from human genetics and exploring how mouse models of human mutations have helped identify specific molecular pathways (protein synthesis and degradation, chromatin remodeling, intracellular signaling), which are linked to alterations in circuit function and cognitive/social behavior. We will conclude by discussing how we can leverage the findings on molecular and cellular alterations found in ASD to develop therapies for neurodevelopmental disorders.