SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

Aleksandr Shcheglovitov, Olesya Shcheglovitova, Masayuki Yazawa, Thomas Portmann, Rui Shu, Vittorio Sebastiano, Anna Krawisz, Wendy Froehlich, Jonathan A. Bernstein, Joachim F. Hallmayer and Ricardo E. Dolmetsch ()
Additional contact information
Aleksandr Shcheglovitov: Stanford University
Olesya Shcheglovitova: Stanford University
Masayuki Yazawa: Stanford University
Thomas Portmann: Stanford University
Rui Shu: Stanford University
Vittorio Sebastiano: Stanford University
Anna Krawisz: Stanford University
Wendy Froehlich: Stanford University
Jonathan A. Bernstein: Stanford University
Joachim F. Hallmayer: Stanford University
Ricardo E. Dolmetsch: Novartis Institutes for Biomedical Research

Nature, 2013, vol. 503, issue 7475, 267-271

Abstract: Deletions of chromosome 22q13.3 cause Phelan–McDermid syndrome (PMDS), a neurodevelopmental disorder associated with autism; here induced pluripotent stem cells from PMDS patients with autism are used to produce neurons, they are shown to have reduced SHANK3 expression and a defect in excitatory synaptic transmission which can be restored either by increasing SHANK3 or with insulin-like growth factor 1.

Date: 2013
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DOI: 10.1038/nature12618

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