What have organoids and assembloids taught us about the pathophysiology of neuropsychiatric disorders?

RJ Levy, SP Paşca - Biological Psychiatry, 2023 - Elsevier
Neuropsychiatric research has been impeded by limited access to human brain tissue,
especially from early stages of neurodevelopment when the pathophysiology of many …

Modeling human telencephalic development and autism-associated SHANK3 deficiency using organoids generated from single neural rosettes

Y Wang, S Chiola, G Yang, C Russell… - Nature …, 2022 - nature.com
Human telencephalon is an evolutionarily advanced brain structure associated with many
uniquely human behaviors and disorders. However, cell lineages and molecular pathways …

Bridging the translational gap: what can synaptopathies tell us about autism?

CJ Molloy, J Cooke, NJF Gatford… - Frontiers in Molecular …, 2023 - frontiersin.org
Multiple molecular pathways and cellular processes have been implicated in the
neurobiology of autism and other neurodevelopmental conditions. There is a current focus …

Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism

L Wang, VR Mirabella, R Dai, X Su, R Xu, A Jadali… - Molecular …, 2024 - nature.com
Mutations in many synaptic genes are associated with autism spectrum disorders (ASD),
suggesting that synaptic dysfunction is a key driver of ASD pathogenesis. Among these …

Haploinsufficiency of Shank3 increases the orientation selectivity of V1 neurons

CA Ortiz-Cruz, EJ Marquez, CI Linares-García… - Scientific Reports, 2022 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose hallmarks are
social deficits, language impairment, repetitive behaviors, and sensory alterations. It has …

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 …

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 …

iPSC toolbox for understanding and repairing disrupted brain circuits in autism

S Chiola, NU Edgar, A Shcheglovitov - Molecular psychiatry, 2022 - nature.com
Over the past decade, tremendous progress has been made in defining autism spectrum
disorder (ASD) as a disorder of brain connectivity. Indeed, whole-brain imaging studies …

Targeting Shank3 deficiency and paresthesia in autism spectrum disorder: A brief review

M Huang, Q Qi, T Xu - Frontiers in Molecular Neuroscience, 2023 - frontiersin.org
Autism spectrum disorder (ASD) includes a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction, and repetitive …

Restoration of nNOS Expression Rescues Autistic-Like Phenotypes Through Normalization of AMPA Receptor-Mediated Neurotransmission

X Wang, Y Zhang, S Luo, K Zhao, C Gao, D Mei… - Molecular …, 2024 - Springer
Autism spectrum disorder (ASD) is associated with a range of abnormalities characterized
by deficits in socialization, communication, repetitive behaviors, and restricted interests. We …