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Fragile X Mental Retardation Protein: Past, Present and Future

Current Protein & Peptide Science, 2012
We 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.
Stephanie Ceman, Miri Kim
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Distribution of fragile X mental retardation protein in the human auditory brainstem

Neuroscience, 2014
Fragile 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
Randy J. Kulesza, K. Beebe, Yuan Wang
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The fragile X mental retardation protein, FMRP, recognizes G‐quartets

Mental Retardation and Developmental Disabilities Research Reviews, 2004
AbstractFragile 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.
Jennifer C. Darnell   +4 more
openaire   +3 more sources

Linking the fragile X mental retardation protein to the lipoxygenase pathway

Medical Hypotheses, 2013
Fragile 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.
openaire   +2 more sources

Biology of the fragile X mental retardation protein, an RNA-binding protein

Biochemistry and Cell Biology, 1999
The 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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Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway

Nature Neuroscience, 2004
P. Jin   +8 more
semanticscholar   +1 more source

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