… SHANKs are major scaffolding proteins at postsynaptic … importance of SHANK2 and
SHANK3 mutations in humans, … focused on neuropil SHANK2, ie, synaptic SHANK2, rather than …

… SHANK2 mutations also have been related to ASD and mental retardation (Berkel et al.,
2010… Given the relevance of SHANK3 as a scaffolding protein that localizes at the PSD and …

… Mutations of the postsynaptic scaffold protein Shank2 lead to … loss of function mutation in
SHANK2 gene in human induced … In synapses, Shank2 is able to build the large multimeric …

… the SHANK2 protein with a function in neuronal synapses. … and language deficits, intellectual
disability, microcephaly and … phenotypic spectrum associated with SHANK2 mutations [1]. …

… proteins important for proper synaptic function such as SHANK2. … Fragile X mental retardation
protein FXS … This association was first reported by Berkel et al. 2010, who identified three …

… differentially expressed gene sets for the synapse, neuronal … with heterozygous SHANK2
variants/deletions and SHANK2 … FMR1 gene, which codes for the fragile X mental retardation …

… (loss-of-function mutations), have been linked to ASD, the aim of the present … the genes
associated with ASD are involved in the coding for synaptic cell adhesion molecules and scaffold …

… SHANK2 encode a pivotal scaffold protein in the postsynaptic density (PSD) complexes of
glutamatergic synapses. The … The mutant mice exhibit reduced dendritic spines and basal …

… in human Shank2 (matched with Ser729 of rat Shank2) is also … and mental retardation
patient [29] (Supplementary Fig. 4). … or mutations identified in ASD lead to altered synaptic and …

… genetic abnormalities in ASD are mutations in synaptic … members of the scaffolding protein
family (SHANK1, SHANK2, and … retardation protein (FMRP) deficit due to a mutation in the …