Functional Relevance of Missense Mutations Affecting the N-Terminal Part of Shank3 Found in Autistic Patients

@inproceedings{Nia2018FunctionalRO,
  title={Functional Relevance of Missense Mutations Affecting the N-Terminal Part of Shank3 Found in Autistic Patients},
  author={Fatemeh Hassani Nia and H J Kreienkamp},
  booktitle={Front. Mol. Neurosci.},
  year={2018}
}
Genetic defects in SHANK genes are associated with autism. Deletions and truncating mutations suggest haploinsufficiency for Shank3 as a major cause of disease which may be analyzed in appropriate Shank deficient mouse models. Here we will focus on the functional analysis of missense mutations found in SHANK genes. The relevance of most of these mutations for Shank function, and their role in autism pathogenesis is unclear. This is partly due to the fact that mutations spare the most well… CONTINUE READING
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