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

被引：0
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作者：
Aleksandr Shcheglovitov
Olesya Shcheglovitova
Masayuki Yazawa
Thomas Portmann
Rui Shu
Vittorio Sebastiano
Anna Krawisz
Wendy Froehlich
Jonathan A. Bernstein
Joachim F. Hallmayer
Ricardo E. Dolmetsch
机构：
[1] Stanford University,Department of Neurobiology
[2] Stanford University,Department of Obstetrics and Gynecology
[3] Institute for Stem Cell Biology and Regenerative Medicine,Department of Pediatrics
[4] Stanford University,Department of Psychiatry and Behavioral Science
[5] Stanford University,undefined
[6] Stanford University,undefined
[7] Novartis Institutes for Biomedical Research,undefined
来源：
Nature | 2013年 / 503卷
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摘要：
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.
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页码：267 / 271
页数：4
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