Sala Carlo, Vicidomini Cinzia, Bigi Ilaria, Mossa Adele, Verpelli Chiara
CNR Neuroscience Institute and Department of Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
J Neurochem. 2015 Dec;135(5):849-58. doi: 10.1111/jnc.13232. Epub 2015 Sep 3.
Shank/ProSAP proteins are essential to synaptic formation, development, and function. Mutations in the family of SHANK genes are strongly associated with autism spectrum disorders (ASD) and other neurodevelopmental and neuropsychiatric disorders, such as intellectual disability (ID), and schizophrenia. Thus, the term 'Shankopathies' identifies a number of neuronal diseases caused by alteration of Shank protein expression leading to abnormal synaptic development. With this review we want to summarize the major genetic, molecular, behavior and electrophysiological studies that provide new clues into the function of Shanks and pave the way for the discovery of new therapeutic drugs targeted to treat patients with SHANK mutations and also patients affected by other neurodevelopmental and neuropsychiatric disorders. Shank/ProSAP proteins are essential to synaptic formation, development, and function. Mutations in the family of SHANK genes are strongly associated with autism spectrum disorders (ASD) and other neurodevelopmental and neuropsychiatric disorders, such as intellectual disability (ID), and schizophrenia (SCZ). With this review we want to summarize the major genetic, molecular, behavior and electrophysiological studies that provide new clues into the function of Shanks and pave the way for the discovery of new therapeutic drugs targeted to treat patients with SHANK mutations.
支架蛋白/富含脯氨酸突触相关蛋白对于突触的形成、发育及功能至关重要。SHANK基因家族的突变与自闭症谱系障碍（ASD）以及其他神经发育和神经精神疾病密切相关，如智力残疾（ID）和精神分裂症。因此，“支架蛋白病”一词指的是一系列由支架蛋白表达改变导致突触发育异常所引起的神经元疾病。通过本综述，我们旨在总结主要的遗传学、分子学、行为学和电生理学研究，这些研究为支架蛋白的功能提供了新线索，并为发现针对治疗SHANK突变患者以及其他受神经发育和神经精神疾病影响患者的新型治疗药物铺平道路。支架蛋白/富含脯氨酸突触相关蛋白对于突触的形成、发育及功能至关重要。SHANK基因家族的突变与自闭症谱系障碍（ASD）以及其他神经发育和神经精神疾病密切相关，如智力残疾（ID）和精神分裂症（SCZ）。通过本综述，我们旨在总结主要的遗传学、分子学、行为学和电生理学研究，这些研究为支架蛋白的功能提供了新线索，并为发现针对治疗SHANK突变患者的新型治疗药物铺平道路。
