SHANK proteins: roles at the synapse and in autism spectrum disorder

P Monteiro, G Feng - Nature Reviews Neuroscience, 2017 - nature.com
Several large-scale genomic studies have supported an association between cases of
autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat …

Modeling autism by SHANK gene mutations in mice

Y Jiang, MD Ehlers - Neuron, 2013 - cell.com
Shank family proteins (Shank1, Shank2, and Shank3) are synaptic scaffolding proteins that
organize an extensive protein complex at the postsynaptic density (PSD) of excitatory …

Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

JP Delling, TM Boeckers - Journal of Neurodevelopmental Disorders, 2021 - Springer
Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

L Boccuto, M Lauri, SM Sarasua, CD Skinner… - European Journal of …, 2013 - nature.com
Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD),
pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger …

Neuropsychopathology of autism spectrum disorder: complex interplay of genetic, epigenetic, and environmental factors

R Bhandari, JK Paliwal, A Kuhad - … food intervention and therapy for autism …, 2020 - Springer
Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive
development disorders (PDD) which ranges from atypical autism, autism, and Asperger …

Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders

C Sala, C Vicidomini, I Bigi, A Mossa… - Journal of …, 2015 - Wiley Online Library
Shank/ProSAP proteins are essential to synaptic formation, development, and function.
Mutations in the family of SHANK genes are strongly associated with autism spectrum …

Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies

AM Grabrucker, MJ Schmeisser, M Schoen… - Trends in cell …, 2011 - cell.com
Intact synaptic homeostasis is a fundamental prerequisite for a healthy brain. Thus, it is not
surprising that altered synaptic morphology and function are involved in the molecular …

DNA methylation: a mechanism linking environmental chemical exposures to risk of autism spectrum disorders?

KP Keil, PJ Lein - Environmental epigenetics, 2016 - academic.oup.com
There is now compelling evidence that gene by environment interactions are important in
the etiology of autism spectrum disorders (ASDs). However, the mechanisms by which …

Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses

C Verpelli, E Dvoretskova, C Vicidomini, F Rossi… - Journal of Biological …, 2011 - ASBMB
Shank3/PROSAP2 gene mutations are associated with cognitive impairment ranging from
mental retardation to autism. Shank3 is a large scaffold postsynaptic density protein …

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and …

X Wang, Q Xu, AL Bey, Y Lee, Y Jiang - Molecular autism, 2014 - Springer
Background Considerable clinical heterogeneity has been well documented amongst
individuals with autism spectrum disorders (ASD). However, little is known about the …