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 …

[HTML][HTML] Ubiquitylation at the crossroads of development and disease

M Rape - Nature reviews Molecular cell biology, 2018 - nature.com
Human development requires intricate cell specification and communication pathways that
allow an embryo to generate and appropriately connect more than 200 different cell types …

[HTML][HTML] Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington's disease

DK Wilton, K Mastro, MD Heller, FW Gergits… - Nature medicine, 2023 - nature.com
Huntington's disease (HD) is a devastating monogenic neurodegenerative disease
characterized by early, selective pathology in the basal ganglia despite the ubiquitous …

[HTML][HTML] The neuronal gene arc encodes a repurposed retrotransposon gag protein that mediates intercellular RNA transfer

ED Pastuzyn, CE Day, RB Kearns, M Kyrke-Smith… - Cell, 2018 - cell.com
The neuronal gene Arc is essential for long-lasting information storage in the mammalian
brain, mediates various forms of synaptic plasticity, and has been implicated in …

Dendritic spine plasticity: function and mechanisms

K Runge, C Cardoso, A De Chevigny - Frontiers in synaptic …, 2020 - frontiersin.org
Dendritic spines are small protrusions studding neuronal dendrites, first described in 1888
by Ramón y Cajal using his famous Golgi stainings. Around 50 years later the advance of …

Excitatory/inhibitory balance and circuit homeostasis in autism spectrum disorders

SB Nelson, V Valakh - Neuron, 2015 - cell.com
Autism spectrum disorders (ASDs) and related neurological disorders are associated with
mutations in many genes affecting the ratio between neuronal excitation and inhibition …

From the genetic architecture to synaptic plasticity in autism spectrum disorder

T Bourgeron - Nature Reviews Neuroscience, 2015 - nature.com
Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …

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 …

Microglia sculpt postnatal neural circuits in an activity and complement-dependent manner

DP Schafer, EK Lehrman, AG Kautzman, R Koyama… - Neuron, 2012 - cell.com
Microglia are the resident CNS immune cells and active surveyors of the extracellular
environment. While past work has focused on the role of these cells during disease, recent …

Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders

R Gao, P Penzes - Current molecular medicine, 2015 - ingentaconnect.com
Autism Spectrum Disorders (ASD) and Schizophrenia (SCZ) are cognitive disorders with
complex genetic architectures but overlapping behavioral phenotypes, which suggests …