Dysregulated cholesterol metabolism, aberrant excitability and altered cell cycle of astrocytes in fragile X syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Glia"
DOI: 10.1002/glia.24331
Abstract: Fragile X syndrome (FXS), the most prevalent heritable form of intellectual disability, is caused by the transcriptional silencing of the FMR1 gene. While neuronal contribution to FXS has been extensively studied in both animal and… read more here.
Keywords: fxs; fragile syndrome; cell cycle;
Cerebellum neuropathology and motor skill deficits in fragile X syndrome
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10217
Abstract: Fragile X syndrome (FXS) is a leading form of inherited intellectual disability and single‐gene cause of autism spectrum disorder (ASD) and is characterized by core deficits in cognitive flexibility, sensory sensitivity, emotion, and social interactions.… read more here.
Keywords: skill deficits; motor skill; fxs; motor ... See more keywords
Effects of the sigma-1 receptor agonist blarcamesine in a murine model of fragile X syndrome: neurobehavioral phenotypes and receptor occupancy
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-94079-7
Abstract: 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 models display clinically-relevant phenotypes, such as increased anxiety and… read more here.
Keywords: fxs; fragile syndrome; receptor occupancy; receptor ... See more keywords
Aberrant Rac1-cofilin signaling mediates defects in dendritic spines, synaptic function, and sensory perception in fragile X syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Science Signaling"
DOI: 10.1126/scisignal.aan0852
Abstract: Inhibiting Rac1-PAK-LIMK signaling may restore synaptic function and sensory processing in patients with fragile X syndrome. Rac1-PAK signaling a target for FXS therapy? The inherited intellectual disability and autism-associated disorder fragile X syndrome (FXS) is… read more here.
Keywords: fxs; fragile syndrome; cofilin signaling; cofilin ... See more keywords
Pharmacological treatments for fragile X syndrome based on synaptic dysfunction.
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DOI: 10.2174/1381612825666191102165206
Abstract: BACKGROUND Fragile X syndrome (FXS) is the most common form of monogenic hereditary cognitive impairment, including intellectual disability, autism, hyperactivity and epilepsy. METHODS This article reviews the literature pertaining to the role of synaptic dysfunction… read more here.
Keywords: fxs; pharmacological treatments; fragile syndrome; dysfunction ... See more keywords
Long-term behavioral effects of prenatal stress in the Fmr1-knock-out mouse model for fragile X syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2022.917183
Abstract: Fragile X syndrome (FXS) is a major neurodevelopmental disorder and the most common monogenic cause of autism spectrum disorder (ASD). FXS is caused by a mutation in the X-linked FMR1 gene leading to the absence… read more here.
Keywords: long term; stress; fxs; effects prenatal ... See more keywords
Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndrome
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2024.1393536
Abstract: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and a monogenic cause of autism spectrum disorders. Deficiencies in the fragile X messenger ribonucleoprotein, encoded by the FMR1 gene, lead to… read more here.
Keywords: adhesion molecules; cell adhesion; synaptic cell; fragile syndrome ... See more keywords
Hyperexcitability and Homeostasis in Fragile X Syndrome
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DOI: 10.3389/fnmol.2021.805929
Abstract: 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 FMRP. Despite this simple genetic origin,… read more here.
Keywords: hyperexcitability; fxs; fragile syndrome; plasticity ... See more keywords
The Search for an Effective Therapy to Treat Fragile X Syndrome: Dream or Reality?
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Synaptic Neuroscience"
DOI: 10.3389/fnsyn.2017.00015
Abstract: Fragile X Syndrome (FXS) is the most common form of intellectual disability and a primary cause of autism. It originates from the lack of the Fragile X Mental Retardation Protein (FMRP), which is an RNA-binding… read more here.
Keywords: search effective; effective therapy; fxs; fragile syndrome ... See more keywords
EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome
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DOI: 10.3389/fpsyt.2021.716707
Abstract: Introduction: Fragile X syndrome (FXS) is a genetic disorder caused by a mutation of the fragile X mental retardation 1 gene (FMR1). FXS is associated with neurophysiological abnormalities, including cortical hyperexcitability. Alterations in electroencephalogram (EEG)… read more here.
Keywords: fxs; complexity; fragile syndrome; signal complexity ... See more keywords
Cardiac Startle Response and Clinical Outcomes in Preschool Children With Fragile X Syndrome and Autism Spectrum Disorder
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Psychiatry"
DOI: 10.3389/fpsyt.2021.729127
Abstract: Objective: Poor physiological regulation in response to threat is linked to multiple negative developmental outcomes including anxiety, which is highly prevalent and impairing in young children with neurodevelopmental disabilities like fragile X syndrome (FXS) and… read more here.
Keywords: cardiac startle; group; fxs; response ... See more keywords