[HTML][HTML] 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 …

[HTML][HTML] Molecular signalling and pathways contributing to neurodevelopmental disorders: insights into potential therapeutic avenues

AK McAllister, DP Srivastava… - Frontiers in Molecular …, 2023 - frontiersin.org
Over the last decade, there have been growing interest and important developments in the
understanding of the mechanisms involved in the pathophysiology of neurodevelopmental …

A synaptic trek to autism

T Bourgeron - Current opinion in neurobiology, 2009 - Elsevier
Autism spectrum disorders (ASD) are diagnosed on the basis of three behavioral features
namely deficits in social communication, absence or delay in language, and stereotypy. The …

[HTML][HTML] The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions

J Cooke, CJ Molloy, ASJ Cáceres, T Dinneen… - Frontiers in …, 2022 - frontiersin.org
Synaptic gene conditions, ie,“synaptopathies,” involve disruption to genes expressed at the
synapse and account for between 0.5 and 2% of autism cases. They provide a unique entry …

[HTML][HTML] Shankopathies in the developing brain in autism spectrum disorders

Y Vyas, JE Cheyne, K Lee, Y Jung… - Frontiers in …, 2021 - frontiersin.org
The SHANK family of proteins play critical structural and functional roles in the postsynaptic
density (PSD) at excitatory glutamatergic synapses. Through their multidomain structure they …

[HTML][HTML] Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

[HTML][HTML] Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus

F Hassani Nia, D Woike, V Martens, M Klüssendorf… - Molecular Autism, 2020 - Springer
Background Neurodevelopmental disorders such as autism spectrum disorder (ASD) may
be caused by alterations in genes encoding proteins that are involved in synapse formation …

[HTML][HTML] Uncovering the Functional Link Between SHANK3 Deletions and Deficiency in Neurodevelopment Using iPSC-Derived Human Neurons

G Huang, S Chen, X Chen, J Zheng, Z Xu… - Frontiers in …, 2019 - frontiersin.org
SHANK3 mutations, including de novo deletions, have been associated with autism
spectrum disorders (ASD). However, the effects of SHANK3 loss of function on …

[HTML][HTML] Abnormal striatal development underlies the early onset of behavioral deficits in Shank3B−/− mice

RT Peixoto, L Chantranupong, R Hakim, J Levasseur… - Cell reports, 2019 - cell.com
The neural substrates and pathophysiological mechanisms underlying the onset of cognitive
and motor deficits in autism spectrum disorders (ASDs) remain unclear. Mutations in ASD …

[HTML][HTML] Heterogeneity of cell surface glutamate and GABA receptor expression in shank and CNTN4 autism mouse models

C Heise, JM Preuss, JC Schroeder… - Frontiers in molecular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) refers to a large set of neurodevelopmental disorders,
which have in common both repetitive behavior and abnormalities in social interactions and …