PAK in Alzheimer disease, Huntington disease and X-linked mental retardation. [PDF]
, 2012 Developmental cognitive deficits including X-linked mental retardation (XLMR) can be caused by mutations in P21-activated kinase 3 (PAK3) that disrupt actin dynamics in dendritic spines.
Cole, Greg M +3 more
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Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
Brain Sciences, 2018 Fragile X syndrome (FXS) is the leading known cause of inherited intellectual disability and autism spectrum disorder. It is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene, resulting in a deficit of fragile X mental retardation ...
Anna W. Lee +4 more
doaj +1 more source
Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome. [PDF]
, 2012 Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing.
Borodyanskara, Mariya +3 more
core +3 more sources
Magnetic Resonance in Medicine, Volume 93, Issue 6, Page 2535-2560, June 2025.Abstract The value of preclinical diffusion MRI (dMRI) is substantial. While dMRI enables in vivo non‐invasive characterization of tissue, ex vivo dMRI is increasingly being used to probe tissue microstructure and brain connectivity. Ex vivo dMRI has several experimental advantages including higher SNR and spatial resolution compared to in vivo studies,
Kurt G. Schilling +57 more
wiley +1 more source
Therapeutic Targets and Translational Endpoints in Fragile X Syndrome [PDF]
, 2014 __Abstract__ Fragile X syndrome is the most common inherited cause of intellectual disability. It is more common in boys (1 in 4000) than girls (1 in 6000).
Esch, C.E.F. (Celine) de
core
Phosphorylation of an RNA‐Binding Protein Rck/Me31b by Hippo Is Essential for Adipose Tissue Aging
Aging Cell, Volume 24, Issue 6, June 2025.Evolutionary conserved Hippo/Mst1 signaling non‐canonically regulates the stability of mRNAs through directly phosphorylating a subset of RNA binding proteins to stabilize lipolytic mRNAs. Hpo pathway contributes to the regulation of Drosophila lifespan by modulating the expression and activity of Me31b/RCK, which subsequently affects mRNA levels of ...
Eunbyul Yeom +26 more
wiley +1 more source
Fragile X mental retardation protein coordinates neuron-to-glia communication for clearance of developmentally transient brain neurons. [PDF]
Proc Natl Acad Sci U S A, 2023 Song C, Broadie K.
europepmc +1 more source
Characterization of Fragile X Mental Retardation Protein expression in human nociceptors and their axonal projections to the spinal dorsal horn. [PDF]
J Comp Neurol, 2023 Mitchell ME +6 more
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Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome [PDF]
, 2011 Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. In addition to cognitive deficits, FXS patients exhibit hyperactivity, attention deficits, social difficulties, anxiety, and other autistic-like behaviors.
A Bhattacharyya +52 more
core +4 more sources
Cellular distribution of the Fragile X mental retardation protein in the inner ear: a developmental and comparative study in the mouse, rat, gerbil, and chicken. [PDF]
J Comp Neurol, 2023 Wang X, Fan Q, Yu X, Wang Y.
europepmc +1 more source