Changes in sensitivity of reward and motor behavior to dopaminergic, glutamatergic, and cholinergic drugs in a mouse model of fragile X syndrome. [PDF]
PLoS ONE, 2013 Fragile X syndrome (FXS) is a leading cause of intellectual disability. FXS is caused by loss of function of the FMR1 gene, and mice in which Fmr1 has been inactivated have been used extensively as a preclinical model for FXS.
Eric W Fish +5 more
doaj +1 more source
Multifaceted Changes in Synaptic Composition and Astrocytic Involvement in a Mouse Model of Fragile X Syndrome. [PDF]
, 2019 Fragile X Syndrome (FXS), a common inheritable form of intellectual disability, is known to alter neocortical circuits. However, its impact on the diverse synapse types comprising these circuits, or on the involvement of astrocytes, is not well known. We
Madison, Daniel V +5 more
core +1 more source
Modeling Autistic Features in Animals [PDF]
, 2011 A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
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The cognitive neuropsychological phenotype of carriers of the FMR1 premutation [PDF]
Journal of Neurodevelopmental Disorders, 2014 The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females.
Grigsby, J. +9 more
openaire +5 more sources
Deficits in tactile learning in a mouse model of fragile X syndrome. [PDF]
PLoS ONE, 2014 The fragile X mental retardation 1 mutant mouse (Fmr1 KO) recapitulates several of the neurologic deficits associated with Fragile X syndrome (FXS). As tactile hypersensitivity is a hallmark of FXS, we examined the sensory representation of individual ...
Megan T Arnett +2 more
doaj +1 more source
Characterization of Fragile X mental retardation antibodies for use in cross-species immunoblotting, immunohistochemistry, and electron microscopy [PDF]
, 2009 This information is provided on Cogprints for colleagues in the Fragile X field who have requested it directly in the past. It is also a companion work to the article “Human Fragile X gene locus P1 artificial chromosome transgenic mice” from our group ...
Bauchwitz, Dr. Robert
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Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome. [PDF]
, 2019 BackgroundNumerous preclinical studies have supported the theory that enhanced activation of mGluR5 signaling, due to the absence or reduction of the FMR1 protein, contributes to cognitive and behavioral deficits in patients with fragile X syndrome (FXS).
Berry-Kravis, Elizabeth +7 more
core +2 more sources
Advanced Science, Volume 12, Issue 23, June 20, 2025.LRRC4 deficiency disrupts the metabolic homeostasis of mitochondrial aerobic respiration and glycolysis during GC differentiation by inhibiting the ubiquitination‐mediated degradation of YAP, which ultimately leads to POI. These findings reveal the novel molecular etiology of POI and provide a promising target for prevention and treatment.
Yujie Shang +5 more
wiley +1 more source
Unstable Mutations in the FMR1 Gene and the Phenotypes [PDF]
, 2012 Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest disorders linked to an unstable ('dynamic') mutation, is caused by the large (>200) CGG repeat expansions in the noncoding portion of the FMR1 (Fragile X Mental Retardation-1) gene.
Danuta Z. Loesch, Randi J Hagerman
openaire +3 more sources
Treatment of Fragile X Syndrome with Cannabidiol: A Case Series Study and Brief Review of the Literature. [PDF]
, 2019 Fragile X syndrome (FXS) is an X-linked dominant disorder caused by a mutation in the fragile X mental retardation 1 gene. Cannabidiol (CBD) is an exogenous phytocannabinoid with therapeutic potential for individuals with anxiety, poor sleep, and ...
Bonn-Miller, Marcel +2 more
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