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.
SHANK genes in autism: Defining therapeutic targets
Mossa A;Sala C;Verpelli C
2018
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
