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
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Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
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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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Elevated glycogen synthase kinase 3 activity in Fragile X mice: key metabolic regulator with evidence for treatment potential [PDF]
, 2007 Significant advances have been made in understanding the underlying defects of and developing potential treatments for Fragile X Syndrome (FXS), the most common heritable mental retardation.
Bauchwitz, Dr. Robert P.
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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
Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability [PDF]
, 2017 Oligophrenin-1 (OPHN1) is a Rho GTPase activating protein whose mutations cause X-linked intellectual disability (XLID). How loss of function of Ophnl affects neuronal development is only partly understood.
Allegra, M +7 more
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BMC Genetics, 2000 Background The family of Fragile X Mental Retardation Proteins is composed of three members: Fragile Mental Retardation 1, Fragile X Related 1 and X Related 2 proteins.
Khandjian Edouard W +2 more
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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
PLoS ONE, 2010 BackgroundExpansion of the CGG trinucleotide repeat in the 5'-untranslated region of the FMR1, fragile X mental retardation 1, gene results in suppression of protein expression for this gene and is the underlying cause of Fragile X syndrome.
Melanie A Adams-Cioaba +8 more
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Aberrant differentiation of glutamatergic cells in neocortex of mouse model for fragile X syndrome
Neurobiology of Disease, 2009 The lack of fragile X mental retardation protein (FMRP) causes fragile X syndrome, a common form of inherited mental retardation. Our previous studies revealed alterations in the differentiation of FMRP-deficient neural progenitors.
Topi A. Tervonen +7 more
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