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The fragile X mental retardation protein is associated with ribosomes
Nature Genetics, 1996Fragile X mental retardation syndrome is one of the most common human genetic diseases. Patients carry a methylated expansion of a CGG repeat resulting in the silencing of the FMR1 gene1–5 that codes for a heterogeneous set of proteins (FMRP)6–9. FMRP is abundant in neurons and is also widely expressed, albeit at different levels, in various human and ...
E W, Khandjian +3 more
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Fragile X Mental Retardation Protein: Past, Present and Future
Current Protein & Peptide Science, 2012We begin by reviewing the first characterization of fragile X syndrome, which ultimately led to cloning of the FMR1 gene. Discovery of the molecular basis of this disorder, including expansion of a trinucleotide repeat, gave insight not only into fragile X syndrome but also into the premutation syndromes.
Miri, Kim, Stephanie, Ceman
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The fragile X mental retardation protein, FMRP, recognizes G-quartets
Mental Retardation and Developmental Disabilities Research Reviews, 2004AbstractFragile X mental retardation is a disease caused by the loss of function of a single RNA‐binding protein, FMRP. Identifying the RNA targets recognized by FMRP is likely to reveal much about its functions in controlling some aspects of memory and behavior.
Stephen T Warren, Robert B Darnell
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Fragile X Mental Retardation Protein and Stem Cells
2011Stem cells, which can self-renew and produce different cell types, are regulated by both extrinsic signals and intrinsic factors. Fragile X syndrome, one of the most common forms of inherited mental retardation, is caused by the functional loss of fragile X mental retardation protein (FMRP).
Abrar, Qurashi, Xuekun, Li, Peng, Jin
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Manipulating the Fragile X Mental Retardation Proteins in the Frog
2011The frog is a model of choice to study gene function during early development, since a large number of eggs are easily obtained and rapidly develop external to the mother. This makes it a highly flexible model system in which direct tests of gene function can be investigated by microinjecting RNA antisense reagents. Two members of the Fragile X Related
Marc-Etienne, Huot +3 more
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Distribution of fragile X mental retardation protein in the human auditory brainstem
Neuroscience, 2014Fragile X mental retardation protein (FMRP) binds select mRNAs, functions in intracellular transport of these mRNAs and represses their translation. FMRP is highly expressed in neurons and lack of FMRP has been shown to result in dendritic dysmorphology and altered synaptic function. FMRP is known to interact with mRNAs for the Kv3.1b potassium channel
K, Beebe, Y, Wang, R, Kulesza
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Linking the fragile X mental retardation protein to the lipoxygenase pathway
Medical Hypotheses, 2013Fragile X mental retardation is caused by the absence of the FMRP (fragile X mental retardation protein) a RNA-binding protein encoded by the Fmr1 gene. Despite the large number of studies about this syndrome, it is still unclear how the absence of FMRP affects the physiology of the nervous system.
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Biology of the fragile X mental retardation protein, an RNA-binding protein
Biochemistry and Cell Biology, 1999The fragile X syndrome, an X-linked disease, is the most frequent cause of inherited mental retardation. The syndrome results from the absence of expression of the FMR1 gene (fragile mental retardation 1) owing to the expansion of a CGG trinucleotide repeat located in the 5prime untranslated region of the gene and the subsequent methylation of its CpG
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Fragile X mental retardation: Misregulation of protein synthesis in the developing brain?
Microscopy Research and Technique, 2002AbstractFragile X mental retardation results from the absence of a selective RNA‐binding protein, FMRP. Previous studies demonstrated that FMRP forms messenger ribonucleoprotein (mRNP) complexes to associate with translating polyribosomes, suggesting that FMRP is involved in regulating protein synthesis.
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