[HTML][HTML] 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 …

Genetics of human brain development

Y Zhou, H Song, G Ming - Nature Reviews Genetics, 2024 - nature.com
Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …

[HTML][HTML] mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity

M Pagani, N Barsotti, A Bertero, S Trakoshis… - Nature …, 2021 - nature.com
Postmortem studies have revealed increased density of excitatory synapses in the brains of
individuals with autism spectrum disorder (ASD), with a putative link to aberrant mTOR …

[HTML][HTML] Changes in the synaptic proteome in tauopathy and rescue of tau-induced synapse loss by C1q antibodies

B Dejanovic, MA Huntley, A De Mazière, WJ Meilandt… - Neuron, 2018 - cell.com
Synapse loss and Tau pathology are hallmarks of Alzheimer's disease (AD) and other
tauopathies, but how Tau pathology causes synapse loss is unclear. We used unbiased …

[HTML][HTML] Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

[HTML][HTML] Genetics of glutamate and its receptors in autism spectrum disorder

S Nisar, AA Bhat, T Masoodi, S Hashem, S Akhtar… - Molecular …, 2022 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental impairment characterized by
deficits in social interaction skills, impaired communication, and repetitive and restricted …

A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles

NYA Sey, B Hu, W Mah, H Fauni, JC McAfee… - Nature …, 2020 - nature.com
Most risk variants for brain disorders identified by genome-wide association studies reside in
the noncoding genome, which makes deciphering biological mechanisms difficult. A …

[HTML][HTML] A synaptic perspective of fragile X syndrome and autism spectrum disorders

C Bagni, RS Zukin - Neuron, 2019 - cell.com
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …

[HTML][HTML] Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits

G Tang, K Gudsnuk, SH Kuo, ML Cotrina, G Rosoklija… - Neuron, 2014 - cell.com
Developmental alterations of excitatory synapses are implicated in autism spectrum
disorders (ASDs). Here, we report increased dendritic spine density with reduced …

[HTML][HTML] Immune dysregulation in autism spectrum disorder: what do we know about it?

MA Robinson-Agramonte, E Noris García… - International journal of …, 2022 - mdpi.com
Autism spectrum disorder (ASD) is a group of complex multifactorial neurodevelopmental
disorders characterized by a wide and variable set of neuropsychiatric symptoms, including …