The cerebellar involvement in autism spectrum disorders: from the social brain to mouse models

L Mapelli, T Soda, E D'Angelo, F Prestori - International journal of …, 2022 - mdpi.com
Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that include
a variety of forms and clinical phenotypes. This heterogeneity complicates the clinical and …

Neuroligin-3: a circuit-specific synapse organizer that shapes normal function and autism spectrum disorder-associated dysfunction

M Uchigashima, A Cheung, K Futai - Frontiers in Molecular …, 2021 - frontiersin.org
Chemical synapses provide a vital foundation for neuron-neuron communication and overall
brain function. By tethering closely apposed molecular machinery for presynaptic …

Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors

PE Rothwell, MV Fuccillo, S Maxeiner, SJ Hayton… - Cell, 2014 - cell.com
In humans, neuroligin-3 mutations are associated with autism, whereas in mice, the
corresponding mutations produce robust synaptic and behavioral changes. However …

A subset of autism-associated genes regulate the structural stability of neurons

YC Lin, JA Frei, MBC Kilander, W Shen… - Frontiers in cellular …, 2016 - frontiersin.org
Autism spectrum disorder (ASD) comprises a range of neurological conditions that affect
individuals' ability to communicate and interact with others. People with ASD often exhibit …

Monogenic mouse models of autism spectrum disorders: common mechanisms and missing links

SW Hulbert, YH Jiang - Neuroscience, 2016 - Elsevier
Autism spectrum disorders (ASDs) present unique challenges in the fields of genetics and
neurobiology because of the clinical and molecular heterogeneity underlying these …

The next generation of target capture technologies-large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity

J Dapprich, D Ferriola, K Mackiewicz, PM Clark… - BMC genomics, 2016 - Springer
Background The ability to capture and sequence large contiguous DNA fragments
represents a significant advancement towards the comprehensive characterization of …

A matter of balance: role of neurexin and neuroligin at the synapse

ML Bang, S Owczarek - Neurochemical research, 2013 - Springer
Neurexins and neuroligins are synaptic cell adhesion molecules. Neurexins are primary
located on the presynaptic membrane, whereas neuroligins are strictly postsynaptic …

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

A Quartier, J Courraud, T Thi Ha, G McGillivray… - Human …, 2019 - Wiley Online Library
The X‐linked NLGN3 gene, encoding a postsynaptic cell adhesion molecule, was involved
in a nonsyndromic monogenic form of autism spectrum disorder (ASD) by the description of …

Neuropathology and animal models of autism: genetic and environmental factors

BS Gadad, L Hewitson, KA Young… - Autism research and …, 2013 - Wiley Online Library
Autism is a heterogeneous behaviorally defined neurodevelopmental disorder. It is defined
by the presence of marked social deficits, specific language abnormalities, and stereotyped …

[HTML][HTML] Understanding neurodevelopmental disorders: the promise of regulatory variation in the 3′ UTRome

KA Wanke, P Devanna, SC Vernes - Biological Psychiatry, 2018 - Elsevier
Neurodevelopmental disorders have a strong genetic component, but despite widespread
efforts, the specific genetic factors underlying these disorders remain undefined for a large …