Hyperexcitability and homeostasis in fragile X syndrome

X Liu, V Kumar, NP Tsai, BD Auerbach - Frontiers in Molecular …, 2022 - frontiersin.org
Fragile X Syndrome (FXS) is a leading inherited cause of autism and intellectual disability,
resulting from a mutation in the FMR1 gene and subsequent loss of its protein product …

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 …

Hyperexcitability in the olfactory bulb and impaired fine odor discrimination in the Fmr1 KO mouse model of fragile X syndrome

P Kuruppath, L Xue, F Pouille, ST Jones… - Journal of …, 2023 - Soc Neuroscience
Fragile X syndrome (FXS) is the single most common monogenetic cause of autism
spectrum disorders (ASDs) in humans. FXS is caused by loss of expression of the fragile X …

Anterior piriform cortex dysfunction underlies autism spectrum disorders-related olfactory deficits in Fmr1 conditional deletion mice

L Zhang, C Geng, S Li, Q Tang, P Liu, W Liu… - …, 2024 - nature.com
Previous studies indicated that ASD-related olfactory dysfunctions are rooted in the piriform
cortex. However, the direct evidence supporting a causal link between the dysfunction of the …

Olfactory bulb anomalies in KBG syndrome mouse model and patients

K Goodkey, A Wischmeijer, L Perrin, AES Watson… - BMC medicine, 2024 - Springer
Abstract ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene
associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously …

FXR1 is a novel MRE11-binding partner and participates in oxidative stress responses

F Qi, Q Meng, I Hayashi… - Journal of Radiation …, 2020 - academic.oup.com
Ataxia-telangiectasia (AT) and MRE11-defective Ataxia-telangiectasia-like disorder (ATLD)
patients show progressive cerebellar ataxia. ATM, mutated in AT, can be activated in …

Longitudinal PET studies of mGluR5 in FXS using an FMR1 knockout mouse model

S Afshar, S Lule, G Yuan, X Qu, C Pan… - Translational …, 2022 - degruyter.com
Fragile X syndrome (FXS) is a monogenic disorder characterized by intellectual disability
and behavioral challenges. It is caused by aberrant methylation of the fragile X mental …

[PDF][PDF] The known unknowns: missing pieces in in vivo models of fragile X syndrome

P Kulkarni, A Sevilimedu - J. Rare Dis. Res. Treat, 2020 - rarediseasesjournal.com
ABSTRACT Fragile X Syndrome (FXS) is a rare disease and the leading monogenic cause
of Autism Spectrum Disorders (ASD). It is caused by the silencing of the Fragile X mental …

Reduced axonal caliber and structural changes in a rat model of Fragile X syndrome with a deletion of a K-Homology domain of Fmr1

CEM Golden, Y Yee, VX Wang… - Translational …, 2020 - nature.com
Fragile X syndrome (FXS) is a neurodevelopmental disorder that is caused by mutations in
the FMR1 gene. Neuroanatomical alterations have been reported in both male and female …

“Emotional nose”: The hedonic character of olfaction and its epistemological and clinical implications

V Bochicchio, NM Maldonato, R Vitelli… - 2019 10th IEEE …, 2019 - ieeexplore.ieee.org
The olfactory system is the oldest device that most organisms have to perceive their physical
and social environment. However, progressing in the evolutionary tree, the importance of the …