期刊
JOURNAL OF NEUROCHEMISTRY
卷 135, 期 5, 页码 849-858出版社
WILEY
DOI: 10.1111/jnc.13232
关键词
excitatory synapse; inhibitory synapse; intellectual disability; mouse models
资金
- Comitato Telethon Fondazione Onlus [GGP13187, GGP11095]
- Fondazione CARIPLO [2012-0593, 2013-0879]
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.
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