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

Author

Listed:
  • Aleksandr Shcheglovitov

    (Stanford University)

  • Olesya Shcheglovitova

    (Stanford University)

  • Masayuki Yazawa

    (Stanford University)

  • Thomas Portmann

    (Stanford University)

  • Rui Shu

    (Stanford University)

  • Vittorio Sebastiano

    (Stanford University
    Institute for Stem Cell Biology and Regenerative Medicine, Stanford University)

  • Anna Krawisz

    (Stanford University)

  • Wendy Froehlich

    (Stanford University
    Stanford University)

  • Jonathan A. Bernstein

    (Stanford University)

  • Joachim F. Hallmayer

    (Stanford University)

  • Ricardo E. Dolmetsch

    (Novartis Institutes for Biomedical Research)

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.

Suggested Citation

  • Aleksandr Shcheglovitov & Olesya Shcheglovitova & Masayuki Yazawa & Thomas Portmann & Rui Shu & Vittorio Sebastiano & Anna Krawisz & Wendy Froehlich & Jonathan A. Bernstein & Joachim F. Hallmayer & Ri, 2013. "SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients," Nature, Nature, vol. 503(7475), pages 267-271, November.
    • Handle: RePEc:nat:nature:v:503:y:2013:i:7475:d:10.1038_nature12618
    DOI: 10.1038/nature12618
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