A Blueprint for Research on Shankopathies: A View From Research on Autism Spectrum Disorder
A Blueprint for Research on Shankopathies: A View From Research on Autism Spectrum Disorder
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DOI：
10.1002/dneu.22150
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发表时间：
2014-02-01
影响因子：
3
通讯作者：
Carbonetto, Salvatore
中科院分区：
文献类型：
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作者：
Carbonetto, Salvatore
自闭症谱系障碍（ASD）与许多基因的突变有关，其中包括一些在突触传递中起作用的基因。Phelan McDermid综合征涉及SHANK3的突变，SHANK3编码一种蛋白质，这种蛋白质在突触上形成谷氨酸受体的支架。SHANK3是支持ASD突触假说的基因之一。我们从更广泛的ASD背景来讨论这一假设，并特别强调包括Shankopathies在内的高渗透性遗传疾病。我们提出了Shankopathies基础研究和转化研究的近期和长期目标蓝图。(C) 2013 Wiley期刊公司
Autism spectrum disorders (ASD) are associated with mutations in a host of genes including a number that function in synaptic transmission. Phelan McDermid syndrome involves mutations in SHANK3 which encodes a protein that forms a scaffold for glutamate receptors at the synapse. SHANK3 is one of the genes that underpins the synaptic hypothesis for ASD. We discuss this hypothesis with a view to the broader context of ASD and with special emphasis on highly penetrant genetic disorders including Shankopathies. We propose a blueprint for near and longer-term goals for fundamental and translational research on Shankopathies. (C) 2013 Wiley Periodicals, Inc.