Fragile X syndrome: from molecular aspect to clinical treatment

DD Protic, R Aishworiya, MJ Salcedo-Arellano… - International journal of …, 2022 - mdpi.com
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as
well as highly localized methylation of the fragile X mental retardation 1 (FMR1) gene on the …

From bench to bedside: The mGluR5 system in people with and without Autism Spectrum Disorder and animal model systems

C Carey, N Singh, JT Dunn, T Sementa… - Translational …, 2022 - nature.com
The metabotropic glutamate receptor 5 (mGluR5) is a key regulator of excitatory (E)
glutamate and inhibitory (I) γ-amino butyric acid (GABA) signalling in the brain. Despite the …

Effects of AFQ056 on language learning in fragile X syndrome

E Berry-Kravis, L Abbeduto… - The Journal of …, 2024 - Am Soc Clin Investig
BACKGROUND FXLEARN, the first-ever large multisite trial of effects of disease-targeted
pharmacotherapy on learning, was designed to explore a paradigm for measuring effects of …

Blunted type-5 metabotropic glutamate receptor-mediated polyphosphoinositide hydrolysis in two mouse models of monogenic autism

L Di Menna, R Orlando, G D'Errico, RP Ginerete… - …, 2023 - Elsevier
The involvement of the mGlu5 receptors in the pathophysiology of several forms of
monogenic autism has been supported by numerous studies following the seminal …

Cerebral expression of metabotropic glutamate receptor subtype 5 in idiopathic autism spectrum disorder and fragile X syndrome: a pilot study

JR Brašić, A Nandi, DS Russell, D Jennings… - International journal of …, 2021 - mdpi.com
Multiple lines of evidence suggest that dysfunction of the metabotropic glutamate receptor
subtype 5 (mGluR5) plays a role in the pathogenesis of autism spectrum disorder (ASD). Yet …

In vivo imaging of mGlu5 receptor expression in humans with Fragile X Syndrome towards development of a potential biomarker

M Mody, Y Petibon, P Han, D Kuruppu, C Ma… - Scientific reports, 2021 - nature.com
Abstract Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by silencing of
the Fragile X Mental Retardation (FMR1) gene. The resulting loss of Fragile X Mental …

Metabotropic Glutamate Receptor Subtype 5 Positron-Emission-Tomography Radioligands as a Tool for Central Nervous System Drug Development: Between …

AC Dupont, N Arlicot, J Vercouillie, S Serrière, S Maia… - Pharmaceuticals, 2023 - mdpi.com
The metabotropic glutamate receptor subtype 5 (mGluR5) is a class C G-protein-coupled
receptor (GPCR) that has been implicated in various neuronal processes and, consequently …

Challenges in developing therapies in fragile X syndrome: how the FXLEARN trial can guide research

JL Neul - The Journal of Clinical Investigation, 2024 - Am Soc Clin Investig
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and the
single-gene cause of autism, is caused by decreased expression of the fragile X messenger …

Fragile X mental retardation protein and cerebral expression of metabotropic glutamate receptor subtype 5 in men with fragile X syndrome: a pilot study

JR Brašić, JA Goodman, A Nandi, DS Russell… - Brain Sciences, 2022 - mdpi.com
Multiple lines of evidence suggest that a deficiency of Fragile X Mental Retardation Protein
(FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) in …

Gaboxadol in fragile X syndrome: a 12-week randomized, double-blind, parallel-group, phase 2a study

DB Budimirovic, KC Dominick, LV Gabis… - Frontiers in …, 2021 - frontiersin.org
Background: Fragile X syndrome (FXS), the most common single-gene cause of intellectual
disability and autism spectrum disorder (ASD), is caused by a> 200-trinucleotide repeat …