Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment

JM Palumbo, BF Thomas, D Budimirovic… - Journal of …, 2023 - Springer
Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in
the neuronal development and cognitive function and in the pathogenesis of fragile X …

Rare diseases of epigenetic origin: Challenges and opportunities

MP Fu, SM Merrill, M Sharma, WT Gibson… - Frontiers in …, 2023 - frontiersin.org
Rare diseases (RDs), more than 80% of which have a genetic origin, collectively affect
approximately 350 million people worldwide. Progress in next-generation sequencing …

Anandamide and 2-arachidonoylglycerol differentially modulate autistic-like traits in a genetic model of autism based on FMR1 deletion in rats

S Schiavi, A Manduca, E Carbone, V Buzzelli… - …, 2023 - nature.com
Autism spectrum disorder (ASD) has a multifactorial etiology. Major efforts are underway to
understand the neurobiological bases of ASD and to develop efficacious treatment …

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing

Q Liang, Y Liu, Y Liu, R Duan, W Meng, J Zhan… - Clinical …, 2022 - academic.oup.com
Abstract Background Fragile X syndrome (FXS) is the most frequent cause of inherited X-
linked intellectual disability. Conventional FXS genetic testing methods mainly focus on …

[HTML][HTML] Prenatal THC exposure drives sex-specific alterations in spatial memory and hippocampal excitatory/inhibitory balance in adolescent rats

V Castelli, G Lavanco, G Tringali, C D'Amico… - Biomedicine & …, 2024 - Elsevier
The interaction between the main psychotropic ingredient of Cannabis, Δ⁹-
tetrahydrocannabinol (THC), with the endogenous cannabinoid system (ECS) is a critical …

A bibliometrics analysis and visualization of autism spectrum disorder

P Rong, Q Fu, X Zhang, H Liu, S Zhao, X Song… - Frontiers in …, 2022 - frontiersin.org
Background The prevalence of autism spectrum disorder (ASD) increased rapidly in the last
20 years. Although related research has developed rapidly, little is known about its etiology …

Insights into the structure and function of the hippocampus: implications for the pathophysiology and treatment of autism spectrum disorder

J Long, H Li, Y Liu, X Liao, Z Tang, K Han… - Frontiers in …, 2024 - frontiersin.org
The hippocampus is one of the brain areas affected by autism spectrum disorder (ASD).
Individuals with ASD typically have impairments in hippocampus-dependent learning …

Dysregulation of the mTOR-FMRP pathway and synaptic plasticity in an environmental model of ASD

ML Hilal, E Rosina, G Pedini, L Restivo, C Bagni - Molecular Psychiatry, 2024 - nature.com
Abstract Autism Spectrum Disorder (ASD) is caused by genetic, epigenetic, and
environmental factors. Mutations in the human FMR1 gene, encoding the Fragile X …

Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X …

KK Chadman, T Adayev, A Udayan, R Ahmed, CL Dai… - Genes, 2023 - mdpi.com
Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual
disability and autism. Gene therapy may offer an efficient method to ameliorate the …

Region-Related Differences in Short-Term Synaptic Plasticity and Synaptotagmin-7 in the Male and Female Hippocampus of a Rat Model of Fragile X Syndrome

G Tsotsokou, A Miliou, G Trompoukis… - International Journal of …, 2024 - mdpi.com
Fragile X syndrome (FXS) is an intellectual developmental disorder characterized, inter alia,
by deficits in the short-term processing of neural information, such as sensory processing …