… ; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report
that a mutation of a single copy of SHANK3 … and/or social communication disorders. These …

… disability, autism spectrum disorder (ASD) and schizophrenia. At the synapse, Shank3/ProSAP2
is a scaffolding protein that … Mutations in the gene encoding the synaptic scaffolding …

… synaptic genes in individuals with SCZ and autism spectrum disorder (ASD), two
neurodevelopmental disorders. … strongly suggest that mutations in the SHANK3 gene are involved …

… are strongly associated with autism spectrum disorders (ASD… SHANK3 mutations in patients
with ASD (Durand et al. 2007). … synapses and Shank-associated scaffold proteins, Shank3 (…

… Mutations in SHANK3, which encodes a synaptic scaffolding … The SHANK3 gene encodes
a protein of the postsynaptic … frequency of mutations involved and the associated phenotypic …

… with mutations or deletions in specific genes encoding postsynaptic scaffolding proteins
display … Mutations in Shank3 are strongly associated with neuropsychiatric symptoms (such as …

2007; 23: 67-73. 5. Pichlmair A, Schulz O, Tan CP, et al. RIG-I-mediated antiviral responses
to single-stranded RNA bearing 5’-phosphates. Science 2006; 314: 997-1001. 6. Hornung V, …

… SHANK3 is a synaptic scaffolding protein enriched in the … Since several SHANK3 mutations
have been identified in a … Durand et al. [11] demonstrated the presence of a terminal 22q …

… novo mutations in the SHANK3 gene, a synaptic scaffolding … of genes in autistic individuals,
focusing on genes encoding … with Durand et al. 2007 who showed that abnormal SHANK3 …

… SHANK3 and SHANK1, SHANK2 is a scaffolding protein of … of the implicated genes encode
synaptic proteins that have … how different mutations in the Shank3 gene may lead to mutation-…