… 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 …

… (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 …

… At the end of the maturation, synapses are established in the … that SHANK2 mutations
resulted in a decrease in spine volume and a decrease in cluster size (Berkel et al., 2010; Berkel et …

… SHANK2 and Shank2 mutations have been associated with synaptic deficits such as a
decrease in synaptic … et al., 2022; Nikiforuk et al., 2010). Surprisingly, we found no effects of …

… synapses, acting as master-scaffolding proteins within the post-… in Shank genes profoundly
and detrimentally affect synaptic … Since 2010, mutations in the human SHANK2 gene have …

… mutation on SHANK2, which is found in a patient with autism, … , SHANK2 gene is the largest
and encodes large scaffolding … (PSD) of excitatory synapses and possess multiple functional …

… gene resulting in the loss of the Fragile X Mental Retardation … organization of excitatory
synapses and the stabilization of … (SHANK1, SHANK2, SHANK3) have strong genetic evidence …

… The SHANK2 (also known as ProSAP1) gene is present on … novo heterozygous SHANK2
deletion (Berkel et al., 2010). … afebrile seizures, mental retardation and dysmorphic features had …

… In recent research, mutations in SHANK1 and SHANK2 have … 13.4 region containing SHANK2
gene. Different independent … that SHANK2 variants can reduce the number of synapses in …

… monogenic variation in genes that encode synaptic proteins. In … Postsynaptic organization
is maintained by scaffolding … activity in both heterozygous mutant and knock out STXBP1 lines. …