Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

Sex differences in autism spectrum disorder: diagnostic, neurobiological, and behavioral features

A Napolitano, S Schiavi, P La Rosa… - Frontiers in …, 2022 - frontiersin.org
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a
worldwide prevalence of about 1%, characterized by impairments in social interaction …

mTOR signaling disruption and its association with the development of autism spectrum disorder

SD Thomas, NK Jha, S Ojha, B Sadek - Molecules, 2023 - mdpi.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized
by impairments in social interaction and communication along with repetitive stereotypic …

Elevated protein synthesis in microglia causes autism-like synaptic and behavioral aberrations

ZX Xu, GH Kim, JW Tan, AE Riso, Y Sun, EY Xu… - Nature …, 2020 - nature.com
Mutations that inactivate negative translation regulators cause autism spectrum disorders
(ASD), which predominantly affect males and exhibit social interaction and communication …

[图书][B] Translational mouse models of autism: advancing toward pharmacological therapeutics

TM Kazdoba, PT Leach, M Yang, JL Silverman… - 2016 - Springer
Animal models provide preclinical tools to investigate the causal role of genetic mutations
and environmental factors in the etiology of autism spectrum disorder (ASD). Knockout and …

GABAB receptor agonist R-baclofen reverses social deficits and reduces repetitive behavior in two mouse models of autism

JL Silverman, MC Pride, JE Hayes… - …, 2015 - nature.com
Autism spectrum disorder (ASD) is diagnosed by two core behavioral criteria, unusual
reciprocal social interactions and communication, and stereotyped, repetitive behaviors with …

Behavioral phenotypes of genetic mouse models of autism

TM Kazdoba, PT Leach… - Genes, Brain and …, 2016 - Wiley Online Library
More than a hundred de novo single gene mutations and copy‐number variants have been
implicated in autism, each occurring in a small subset of cases. Mutant mouse models with …

Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder …

K Cummings, A Watkins, C Jones, R Dias… - Journal of …, 2022 - Springer
Background P hosphatase and ten sin homologue (PTEN) is a cancer suppressor gene.
Constitutional mutations affecting this gene are associated with several conditions …

Cognitive dysfunctions in intellectual disabilities: the contributions of the Ras-MAPK and PI3K-AKT-mTOR pathways

SC Borrie, H Brems, E Legius… - Annual review of …, 2017 - annualreviews.org
The Ras-MAPK and PI3K-AKT-mTOR signaling cascades were originally identified as
cancer regulatory pathways but have now been demonstrated to be critical for synaptic …

Dopaminergic dysregulation in syndromic autism spectrum disorders: insights from genetic mouse models

P Kosillo, HS Bateup - Frontiers in Neural Circuits, 2021 - frontiersin.org
Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by altered social
interaction and communication, and repetitive, restricted, inflexible behaviors. Approximately …