[HTML][HTML] Comparing synaptic proteomes across five mouse models for autism reveals converging molecular similarities including deficits in oxidative phosphorylation�…

AU Carbonell, C Freire-Cobo, IV Deyneko…�- Frontiers in Aging�…, 2023 - frontiersin.org
Specific and effective treatments for autism spectrum disorder (ASD) are lacking due to a
poor understanding of disease mechanisms. Here we test the idea that similarities between�…

[HTML][HTML] Effects of the sigma-1 receptor agonist blarcamesine in a murine model of fragile X syndrome: neurobehavioral phenotypes and receptor occupancy

ST Reyes, RMJ Deacon, SG Guo, FJ Altimiras…�- Scientific Reports, 2021 - nature.com
Fragile X syndrome (FXS), a disorder of synaptic development and function, is the most
prevalent genetic form of intellectual disability and autism spectrum disorder. FXS mouse�…

[HTML][HTML] Epilepsy and autism Spectrum disorder (ASD): the underlying mechanisms and therapy targets related to adenosine

M Guo, P Xie, S Liu, G Luan, T Li�- Current neuropharmacology, 2023 - ncbi.nlm.nih.gov
Epilepsy and autism spectrum disorder (ASD) are highly mutually comorbid, suggesting
potential overlaps in genetic etiology, pathophysiology, and neurodevelopmental�…

[HTML][HTML] Autism symptoms in children and young adults with fragile x syndrome, angelman syndrome, tuberous sclerosis complex, and neurofibromatosis type 1: a�…

K Lubbers, EM Stijl, B Dierckx, DA Hagenaar…�- Frontiers in�…, 2022 - frontiersin.org
Objective The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic
heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD�…

[HTML][HTML] Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes

H Kimura, M Nakatochi, B Aleksic, J Guevara…�- Translational�…, 2022 - nature.com
Autism spectrum disorder (ASD) is a highly heritable, complex disorder in which rare
variants contribute significantly to disease risk. Although many genes have been associated�…

Fragile X syndrome: lessons learned and what new treatment avenues are on the horizon

RJ Hagerman, PJ Hagerman�- Annual Review of Pharmacology�…, 2022 - annualreviews.org
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the
leading single-gene form of autism spectrum disorder, encompassing cognitive, behavioral�…

Mutation of the ALS/FTD-associated RNA-binding protein FUS affects axonal development

FW van Tartwijk, LCS Wunderlich, I Mela…�- Journal of�…, 2024 - Soc Neuroscience
Aberrant condensation and localisation of the RNA-binding protein (RBP) fused in sarcoma
(FUS) occur in variants of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia�…

Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis

G Chen, L Han, S Tan, X Jia, H Wu, Y Quan…�- Journal of Genetics and�…, 2022 - Elsevier
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that cause
severe social, communication, and behavioral problems. Recent studies show that the�…

[HTML][HTML] FMRP-mediated spatial regulation of physiologic NMD targets in neuronal cells

T Kurosaki, X Rambout, LE Maquat�- Genome Biology, 2024 - Springer
In non-polarized cells, nonsense-mediated mRNA decay (NMD) generally begins during the
translation of newly synthesized mRNAs after the mRNAs are exported to the cytoplasm�…

[HTML][HTML] Enhanced Prefrontal Neuronal Activity and Social Dominance Behavior in Postnatal Forebrain Excitatory Neuron-Specific Cyfip2 Knock-Out Mice

Y Zhang, R Kang Hyae, SH Lee, Y Kim…�- Frontiers in Molecular�…, 2020 - frontiersin.org
The cytoplasmic fragile X mental retardation 1 (FMR1)-interacting protein 2 (CYFIP2) gene is
associated with epilepsy, intellectual disability (ID), and developmental delay, suggesting its�…