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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, 2007 Fragile X syndrome, the most frequent form of inherited mental retardation, is due to the absence of expression of the Fragile X Mental Retardation Protein (FMRP), an RNA binding protein with high specificity for G-quartet RNA structure. FMRP is involved
Tremblay, Sandra +9 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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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.
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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.
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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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Progress toward therapeutic potential for AFQ056 in Fragile X syndrome
Journal of Experimental Pharmacology, 2013 Mary Sourial, Connie Cheng, Laurie C Doering Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada Abstract: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading ...
Sourial M, Cheng C, Doering LC
doaj
Altered GABA signalling in a mouse model of fragile X syndrome.
, 2007 The absence of fragile X mental retardation protein results in the fragile X syndrome (FXS), a common form of mental retardation associated with attention deficit, autistic behavior, and epileptic seizures. The phenotype of FXS is reproduced in fragile X
Papouin T +3 more
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