Channelopathies in fragile X syndrome

PY Deng, VA Klyachko - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the
leading monogenic cause of autism. The condition stems from loss of fragile X mental …

Interneuron dysfunction and inhibitory deficits in autism and fragile X syndrome

T Nomura - Cells, 2021 - mdpi.com
The alteration of excitatory–inhibitory (E–I) balance has been implicated in various
neurological and psychiatric diseases, including autism spectrum disorder (ASD). Fragile X …

Excitatory neuron-specific suppression of the integrated stress response contributes to autism-related phenotypes in fragile X syndrome

M Hooshmandi, V Sharma, CT Perez, R Sood… - Neuron, 2023 - cell.com
Dysregulation of protein synthesis is one of the key mechanisms underlying autism spectrum
disorder (ASD). However, the role of a major pathway controlling protein synthesis, the …

Mouse models of fragile X-related disorders

R Willemsen, RF Kooy - Disease Models & Mechanisms, 2023 - journals.biologists.com
The fragile X-related disorders are an important group of hereditary disorders that are
caused by expanded CGG repeats in the 5′ untranslated region of the FMR1 gene or by …

FPT, a 2-Aminotetralin, Is a Potent Serotonin 5-HT1A, 5-HT1B, and 5-HT1D Receptor Agonist That Modulates Cortical Electroencephalogram Activity in Adult Fmr1 …

TS Saraf, RP McGlynn, OM Bhatavdekar… - ACS chemical …, 2022 - ACS Publications
There are no approved medicines for fragile X syndrome (FXS), a monogenic,
neurodevelopmental disorder. Electroencephalogram (EEG) studies show alterations in …

The role of aberrant neural oscillations in the hippocampal-medial prefrontal cortex circuit in neurodevelopmental and neurological disorders

N Shing, MC Walker, P Chang - Neurobiology of Learning and Memory, 2022 - Elsevier
The hippocampus (HPC) and medial prefrontal cortex (mPFC) have well-established roles in
cognition, emotion, and sensory processing. In recent years, interests have shifted towards …

Rescue of sharp wave-ripples and prevention of network hyperexcitability in the ventral but not the dorsal hippocampus of a rat model of fragile X syndrome

LJ Leontiadis, G Trompoukis, G Tsotsokou… - Frontiers in cellular …, 2023 - frontiersin.org
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by
intellectual disability and is related to autism. FXS is caused by mutations of the fragile X …

Mechanisms driving the emergence of neuronal hyperexcitability in fragile X syndrome

P Bülow, M Segal, GJ Bassell - International Journal of Molecular …, 2022 - mdpi.com
Hyperexcitability is a shared neurophysiological phenotype across various genetic
neurodevelopmental disorders, including Fragile X syndrome (FXS). Several patient …

[HTML][HTML] Overlapping molecular pathways leading to autism spectrum disorders, fragile X syndrome, and targeted treatments

MJ Salcedo-Arellano, AM Cabal-Herrera, RH Punatar… - …, 2021 - Elsevier
Autism spectrum disorders (ASD) are subdivided into idiopathic (unknown) etiology and
secondary, based on known etiology. There are hundreds of causes of ASD and most of …

FMRP regulates GABAA receptor channel activity to control signal integration in hippocampal granule cells

PY Deng, A Kumar, V Cavalli, VA Klyachko - Cell reports, 2022 - cell.com
Fragile X syndrome, the most common inherited form of intellectual disability, is caused by
loss of fragile X mental retardation protein (FMRP). GABAergic system dysfunction is one of …