Prenatal and postnatal neuroimmune interactions in neurodevelopmental disorders

E Kim, JR Huh, GB Choi - Nature Immunology, 2024 - nature.com
The intricate relationship between immune dysregulation and neurodevelopmental
disorders (NDDs) has been observed across the stages of both prenatal and postnatal …

Targeting PI3K-AKT/mTOR signaling in the prevention of autism

A Sharma, S Mehan - Neurochemistry International, 2021 - Elsevier
Abstract PI3K-AKT/mTOR signaling pathway represents an essential signaling mechanism
for mammalian enzyme-related receptors in transducing signals or biological processes …

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney… - Nature, 2014 - nature.com
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

[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 …

Deficient autophagy in microglia impairs synaptic pruning and causes social behavioral defects

HJ Kim, MH Cho, WH Shim, JK Kim, EY Jeon… - Molecular …, 2017 - nature.com
Autism spectrum disorders (ASDs) are neurodevelopmental disorders caused by various
genetic and environmental factors that result in synaptic abnormalities. ASD development is …

Excess of rare, inherited truncating mutations in autism

N Krumm, TN Turner, C Baker, L Vives, K Mohajeri… - Nature …, 2015 - nature.com
To assess the relative impact of inherited and de novo variants on autism risk, we generated
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …

Modulation of autophagy by BDNF underlies synaptic plasticity

V Nikoletopoulou, K Sidiropoulou, E Kallergi… - Cell metabolism, 2017 - cell.com
Autophagy is crucial for neuronal integrity. Loss of key autophagic components leads to
progressive neurodegeneration and structural defects in pre-and postsynaptic …

The role of the microtubule cytoskeleton in neurodevelopmental disorders

M Lasser, J Tiber, LA Lowery - Frontiers in cellular neuroscience, 2018 - frontiersin.org
Neurons depend on the highly dynamic microtubule (MT) cytoskeleton for many different
processes during early embryonic development including cell division and migration …

A de novo convergence of autism genetics and molecular neuroscience

N Krumm, BJ O'Roak, J Shendure, EE Eichler - Trends in neurosciences, 2014 - cell.com
Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental
disorders with large genetic components, but identification of pathogenic genes has …