McGovern Institute for Brain Research and Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
Annu Rev Neurosci. 2012;35:49-71. doi: 10.1146/annurev-neuro-062111-150442. Epub 2012 Apr 20.
Functional studies on postsynaptic scaffolding proteins at excitatory synapses have revealed a plethora of important roles for synaptic structure and function. In addition, a convergence of recent in vivo functional evidence together with human genetics data strongly suggest that mutations in a variety of these postsynaptic scaffolding proteins may contribute to the etiology of diverse human psychiatric disorders such as schizophrenia, autism spectrum disorders, and obsessive-compulsive spectrum disorders. Here we review the most recent evidence for several key postsynaptic scaffolding protein families and explore how mouse genetics and human genetics have intersected to advance our knowledge concerning the contributions of these important players to complex brain function and dysfunction.
研究兴奋性突触后支架蛋白的功能揭示了突触结构和功能的诸多重要作用。此外，最近体内功能证据的汇聚以及人类遗传学数据强烈表明，这些突触后支架蛋白中的各种突变可能导致多种人类精神疾病的病因，如精神分裂症、自闭症谱系障碍和强迫症谱系障碍。在这里，我们回顾了几个关键的突触后支架蛋白家族的最新证据，并探讨了小鼠遗传学和人类遗传学是如何交叉的，以增进我们对这些重要参与者对复杂大脑功能和功能障碍的贡献的认识。
