A de novo convergence of autism genetics and molecular neuroscience
Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental
disorders with large genetic components, but identification of pathogenic genes has …
disorders with large genetic components, but identification of pathogenic genes has …
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 …
for mammalian enzyme-related receptors in transducing signals or biological processes …
Synaptic, transcriptional and chromatin genes disrupted in autism
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 …
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
Developmental alterations of excitatory synapses are implicated in autism spectrum
disorders (ASDs). Here, we report increased dendritic spine density with reduced …
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 …
genetic and environmental factors that result in synaptic abnormalities. ASD development is …
Excess of rare, inherited truncating mutations in autism
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 …
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …
Modulation of autophagy by BDNF underlies synaptic plasticity
Autophagy is crucial for neuronal integrity. Loss of key autophagic components leads to
progressive neurodegeneration and structural defects in pre-and postsynaptic …
progressive neurodegeneration and structural defects in pre-and postsynaptic …
Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autism
DA Rossignol, RE Frye - Frontiers in physiology, 2014 - frontiersin.org
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental
disorders that are defined solely on the basis of behavioral observations. Therefore, ASD …
disorders that are defined solely on the basis of behavioral observations. Therefore, ASD …
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 …
processes during early embryonic development including cell division and migration …
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
J Thevenon, Y Duffourd, A Masurel‐Paulet… - Clinical …, 2016 - Wiley Online Library
The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …