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The Fragile X mental retardation protein
Brain Research Bulletin, 2001The clinical features of the Fragile X mental retardation syndrome are linked to the absence of the set of protein isoforms, derived from alternative splicing of the Fragile X mental retardation gene 1 (FMR1), and collectively termed FMRP. FMRP is an RNA binding protein that is part of a ribonucleoprotein particle associated to actively translating ...
Bardoni, Barbara +2 more
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Fragile X mental retardation protein in plasticity and disease
Journal of Neuroscience Research, 2002AbstractFragile X syndrome is the most common cause of mental retardation known to be inherited. The syndrome results from the suppressed expression of a single protein, the fragile X mental retardation protein (FMRP). Understanding the function and regulation of FMRP can, therefore, offer insights into both the pathophysiology of fragile X syndrome ...
Peter K, Todd, James S, Malter
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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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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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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.
Jennifer C, Darnell +2 more
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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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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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Structure-Function Analysis of Axonal Fragile X Mental Retardation Protein
2021Silencing of the Fragile X Mental Retardation Protein (FMRP)-encoding gene Fmr1 causes Fragile X Syndrome, the leading known cause of autism. FMRP is an alternatively spliced, multidomain, RNA-binding protein most highly expressed in the brain that regulates mRNA transport and translation.
Stephanie Elaine Zimmer +1 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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