Article
SHANK proteins: roles at the synapse and in autism spectrum disorder.
Nature reviews. Neuroscience - 1 Mar 2017
Monteiro Patricia, Feng Guoping
Abstract excerpt
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...
Topics
- Animals
- Autism Spectrum Disorder
- Child Development Disorders, Pervasive
- Humans
- Mutation
- Nerve Tissue Proteins
- Neurons
- Synapses