SHANK proteins: roles at the synapse and in autism spectrum disorder

@article{Monteiro2017SHANKPR,
  title={SHANK proteins: roles at the synapse and in autism spectrum disorder},
  author={Patr{\'i}cia Monteiro and Guoping Feng},
  journal={Nature Reviews Neuroscience},
  year={2017},
  volume={18},
  pages={147-157}
}
Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human genetic data, as well as of in vitro and in vivo animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects… CONTINUE READING
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