The Fragile X syndrome, caused by the absence or mutation of fragile X mental retardation protein, FMRP, is a the common component of inherited intellectual disability and autism. This SnapShot surveys the protein interaction partners of FMRP, focusing on the cellular pathways in which they are involved.
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http://dx.doi.org/10.1016/j.cell.2014.08.036 | DOI Listing |
Cell
September 2014
VIB Center for the Biology of Disease, 3000 Leuven, Belgium; Center for Human Genetics and Leuven Institute for Neurodegenerative Diseases (LIND), KU Leuven, 3000 Leuven, Belgium; Department of Biomedicine and Prevention, University of Rome "Tor Vergata," 00133 Rome, Italy.
The Fragile X syndrome, caused by the absence or mutation of fragile X mental retardation protein, FMRP, is a the common component of inherited intellectual disability and autism. This SnapShot surveys the protein interaction partners of FMRP, focusing on the cellular pathways in which they are involved.
View Article and Find Full Text PDFCell
September 2014
VIB Center for the Biology of Disease, 3000 Leuven, Belgium; Center for Human Genetics and Leuven Institute for Neurodegenerative Diseases (LIND), KU Leuven, 3000 Leuven, Belgium; Department of Biomedicine and Prevention, University of Rome "Tor Vergata," 00133 Rome, Italy.
FMRP, or fragile X mental retardation protein is an RNA-binding protein. Mutations in the FMRP protein have been associated with neurological disease as have a number of its mRNA-binding targets. This SnapShot presents 40 bona fide FMRP targets for which mRNA binding and protein regulation have been robustly reported in mammals along with the diseases with which they have been associated.
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