Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction

A Jimenez-Gomez, MX Nguyen, JS Gill - Frontiers in Psychiatry, 2024 - frontiersin.org
Autism spectrum disorders represent a diverse etiological spectrum that converge on a
syndrome characterized by discrepant deficits in developmental domains often highlighted …

Autism patient-derived SHANK2BY29X mutation affects the development of ALDH1A1 negative dopamine neuron

W Lai, Y Zhao, Y Chen, Z Dai, R Chen, Y Niu… - Molecular …, 2024 - nature.com
Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental conditions.
Different mutations on a single ASD gene contribute to heterogeneity of disease …

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop

MC Savage, G Bliss, JD Buxbaum… - … Advances in Rare …, 2024 - journals.sagepub.com
On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in
Boston, Massachusetts, to identify gaps in knowledge surrounding SHANK3-related …

Exosomes can modulate the early hyperexcitability in cortical neurons with ASD-associated Shank3 mutation.

A Choudhary, I Rosh, Y Hussein, A Shemen, WA Rike… - bioRxiv, 2024 - biorxiv.org
Shank3, a scaffolding protein, is critical for synaptic structure and function, particularly for the
formation and maintenance of dendritic spines. Shank3 mutations are strongly implicated in …