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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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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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Evidence that fragile X mental retardation protein is a negative regulator of translation
Human Molecular Genetics, 2001Fragile X syndrome is a common form of inherited mental retardation. Most fragile X patients exhibit mutations in the fragile X mental retardation gene 1 (FMR1) that lead to transcriptional silencing and hence to the absence of the fragile X mental retardation protein (FMRP).
B, Laggerbauer +4 more
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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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[Hair root fragile X mental retardation protein assay for the diagnosis of fragile X syndrome].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2010Fragile X syndrome (FXS) may be identified by many methods, such as PCR assay and Southern blot. However, each method has its limits or shortcomings. This study explored the reliability of the rapid, convenient and inexpensive hair root fragile X mental retardation protein (FMRP ) assay in the identification of FXS.FMRP in hair roots was determined by ...
Xu-Feng, Luo +6 more
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