[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 …
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 …
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 …
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
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 …
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
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 …
density (PSD) at excitatory glutamatergic synapses. Through their multidomain structure they …
[HTML][HTML] Synaptopathology involved in autism spectrum disorder
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …
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 …
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 …
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
The neural substrates and pathophysiological mechanisms underlying the onset of cognitive
and motor deficits in autism spectrum disorders (ASDs) remain unclear. Mutations in ASD …
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 …
which have in common both repetitive behavior and abnormalities in social interactions and …