The role of glutathione redox imbalance in autism spectrum disorder: a review

G Bjørklund, AA Tinkov, B Hosnedlová, R Kizek… - Free Radical Biology …, 2020 - Elsevier
The role of glutathione in autism spectrum disorder (ASD) is emerging as a major topic, due
to its role in the maintenance of the intracellular redox balance. Several studies have …

Genetic and epigenetic studies in non‐syndromic oral clefts

A Alade, W Awotoye, A Butali - Oral diseases, 2022 - Wiley Online Library
The etiology of non‐syndromic oral clefts (NSOFC) is complex with genetics, genomics,
epigenetics, and stochastics factors playing a role. Several approaches have been applied …

Ankyrins and neurological disease

SR Stevens, MN Rasband - Current opinion in neurobiology, 2021 - Elsevier
Highlights•Ankyrins link membrane proteins to the cytoskeleton to form and maintain
membrane micro-domains.•Ankyrins cluster and organize protein complexes that modulate …

Recent developments in autism genetic research: A scientometric review from 2018 to 2022

M Lim, A Carollo, D Dimitriou, G Esposito - Genes, 2022 - mdpi.com
Genetic research in Autism Spectrum Disorder (ASD) has progressed tremendously in
recent decades. Dozens of genetic loci and hundreds of alterations in the genetic sequence …

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells

N Nassir, A Bankapur, B Samara, A Ali, A Ahmed… - Human Genomics, 2021 - Springer
Background In recent years, several hundred autism spectrum disorder (ASD) implicated
genes have been discovered impacting a wide range of molecular pathways. However, the …

Experimental models to study autism spectrum disorders: hiPSCs, rodents and zebrafish

A Pensado-López, S Veiga-Rúa, Á Carracedo… - Genes, 2020 - mdpi.com
Autism Spectrum Disorders (ASD) affect around 1.5% of the global population, which
manifest alterations in communication and socialization, as well as repetitive behaviors or …

De novo variants are a common cause of genetic hearing loss

MJ Klimara, C Nishimura, D Wang, DL Kolbe… - Genetics in …, 2022 - Elsevier
Abstract Purpose De novo variants (DNVs) are a well-recognized cause of genetic
disorders. The contribution of DNVs to hearing loss (HL) is poorly characterized. We aimed …

[HTML][HTML] Dendritic integration dysfunction in neurodevelopmental disorders

AD Nelson, KJ Bender - Developmental neuroscience, 2021 - karger.com
Neurodevelopmental disorders (NDDs) that affect cognition, social interaction, and learning,
including autism spectrum disorder (ASD) and intellectual disability (ID), have a strong …

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders

J Vilela, H Martiniano, AR Marques… - Frontiers in Molecular …, 2022 - frontiersin.org
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous
clinical presentation, variable severity, and multiple comorbidities. A complex underlying …

Neurobehavioral changes arising from early life dopamine signaling perturbations

LB Areal, RD Blakely - Neurochemistry international, 2020 - Elsevier
Dopamine (DA) signaling is critical to the modulation of multiple brain functions including
locomotion, reinforcement, attention and cognition. The literature provides strong evidence …