Journal
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
Volume 84, Issue -, Pages 416-423Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.pnpbp.2017.11.019
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Funding
- Comitato Telethon Fondazione Onlus grant [GGP16131]
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The term Shankopathies identifies neurodevelopmental diseases, such as autism Spectrum Disorders (ASD), Intellectual Disability (ID), and schizophrenia (SCZ) caused by deletion or mutations of SHANK/ProSAP genes. The three SHANK genes code for a postsynaptic scaffold protein which has a main function of regulating synaptic formation, development and plasticity. The review summarizes the major genetic, molecular and electrophysiological studies that provide new information about the function of Shanks proteins and are prodromic in identifying therapeutic approaches, pharmacological targets for treating patients with SHANK deletions and mutations and eventually for other patients affected by neuropsychiatric and neurodevelopmental disorders.
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