The female autism phenotype and camouflaging: A narrative review
Autism is more commonly diagnosed in males than females. One explanation is the 'female
protective effect': there is something inherent in being female which reduces the likelihood of …
protective effect': there is something inherent in being female which reduces the likelihood of …
Autism spectrum disorder
C Lord, TS Brugha, T Charman, J Cusack… - Nature reviews Disease …, 2020 - nature.com
Autism spectrum disorder is a construct used to describe individuals with a specific
combination of impairments in social communication and repetitive behaviours, highly …
combination of impairments in social communication and repetitive behaviours, highly …
[HTML][HTML] Rescue of oxytocin response and social behaviour in a mouse model of autism
H Hörnberg, E Pérez-Garci, D Schreiner… - Nature, 2020 - nature.com
A fundamental challenge in developing treatments for autism spectrum disorders is the
heterogeneity of the condition. More than one hundred genetic mutations confer high risk for …
heterogeneity of the condition. More than one hundred genetic mutations confer high risk for …
Regulation of NMDA glutamate receptor functions by the GluN2 subunits
The N‐methyl‐D‐aspartate receptors (NMDARs) are ionotropic glutamate receptors that
mediate the flux of calcium (Ca2+) into the post‐synaptic compartment. Ca2+ influx …
mediate the flux of calcium (Ca2+) into the post‐synaptic compartment. Ca2+ influx …
The neuroligins and the synaptic pathway in Autism Spectrum Disorder
L Trobiani, M Meringolo, T Diamanti, Y Bourne… - Neuroscience & …, 2020 - Elsevier
The genetics underlying autism spectrum disorder (ASD) is complex and heterogeneous,
and de novo variants are found in genes converging in functional biological processes …
and de novo variants are found in genes converging in functional biological processes …
A multiplex human pluripotent stem cell platform defines molecular and functional subclasses of autism-related genes
GY Cederquist, J Tchieu, SJ Callahan, K Ramnarine… - Cell stem cell, 2020 - cell.com
Autism is a clinically heterogeneous neurodevelopmental disorder characterized by
impaired social interactions, restricted interests, and repetitive behaviors. Despite significant …
impaired social interactions, restricted interests, and repetitive behaviors. Despite significant …
Cerebral organoids as tools to identify the developmental roots of autism
Some autism spectrum disorders (ASD) likely arise as a result of abnormalities during early
embryonic development of the brain. Studying human embryonic brain development directly …
embryonic development of the brain. Studying human embryonic brain development directly …
[HTML][HTML] Shank3 mutation in a mouse model of autism leads to changes in the S-nitroso-proteome and affects key proteins involved in vesicle release and synaptic …
Mutation in the SHANK3 human gene leads to different neuropsychiatric diseases including
Autism Spectrum Disorder (ASD), intellectual disabilities and Phelan-McDermid syndrome …
Autism Spectrum Disorder (ASD), intellectual disabilities and Phelan-McDermid syndrome …
An epilepsy-associated GRIN2A rare variant disrupts CaMKIIα phosphorylation of GluN2A and NMDA receptor trafficking
Rare variants in GRIN genes, which encode NMDAR subunits, are strongly associated with
neurodevelopmental disorders. Among these, GRIN2A, which encodes the GluN2A subunit …
neurodevelopmental disorders. Among these, GRIN2A, which encodes the GluN2A subunit …
Targeting PPARα in the rat valproic acid model of autism: focus on social motivational impairment and sex-related differences
S Scheggi, F Guzzi, G Braccagni, MG De Montis… - Molecular autism, 2020 - Springer
Background The social motivational theory of autism spectrum disorder (ASD) focuses on
social anhedonia as key causal feature of the impaired peer relationships that characterize …
social anhedonia as key causal feature of the impaired peer relationships that characterize …