HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein [PDF]
Nucleic Acids Res, 2018 Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the functional deficiency of the fragile X mental retardation protein (FMRP), an RNA-binding protein involved in translational regulation of many messenger ...
T. Maurin +8 more
semanticscholar +2 more sources
Development, 2020 Fragile X mental retardation protein (FMRP) is an RNA-binding protein abundant in the nervous system. Functional loss of FMRP leads to sensory dysfunction and severe intellectual disabilities.
Xiaoyu Wang +6 more
semanticscholar +2 more sources
Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2. [PDF]
PLoS ONE, 2010 Expansion of the CGG trinucleotide repeat in the 5'-untranslated region of the FMR1, fragile X mental retardation 1, gene results in suppression of protein expression for this gene and is the underlying cause of Fragile X syndrome.
Melanie A Adams-Cioaba +8 more
doaj +4 more sources
Muscle Specific Fragile X Related Protein 1 Isoforms are Sequestered in the Nucleus of Undifferentiated Myoblast [PDF]
BMC Genetics, 2000 Background The family of Fragile X Mental Retardation Proteins is composed of three members: Fragile Mental Retardation 1, Fragile X Related 1 and X Related 2 proteins.
Khandjian Edouard W +2 more
doaj +4 more sources
Regulation of Heart Rate in Drosophila via Fragile X Mental Retardation Protein. [PDF]
PLoS ONE, 2015 RNA binding proteins play a pivotal role in post-transcriptional gene expression regulation, however little is understood about their role in cardiac function. The Fragile X (FraX) family of RNA binding proteins is most commonly studied in the context of
Stefanie Mares Novak +3 more
doaj +5 more sources
High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells [PDF]
Stem Cells Translational Medicine, 2015 Fragile X syndrome (FXS), the most common form of inherited cognitive disability, is caused by a deficiency of the fragile X mental retardation protein (FMRP).
Daman Kumari +5 more
openalex +2 more sources
Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP) [PDF]
Genes, 2016 The final product of FMR1 gene transcription, Fragile X Mental Retardation Protein 1 (FMRP), is an RNA binding protein that acts as a repressor of translation. FMRP is expressed in several tissues and plays important roles in neurogenesis, synaptic plasticity, and ovarian functions and has been implicated in a number of neuropsychological disorders ...
Giuseppe LaFauci +3 more
openaire +4 more sources
Evidence that fragile X mental retardation protein is a negative regulator of translation.
Human Molecular Genetics, 2001 Fragile 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 ...
B. Laggerbauer +4 more
semanticscholar +4 more sources
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif
EMBO Journal, 2001 Céline Schaeffer
openalex +2 more sources
Semaphorin-3A Promotes Degradation of Fragile X Mental Retardation Protein in Growth Cones via the Ubiquitin-Proteasome Pathway [PDF]
Front Neural Circuits, 2020 Fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates local translation in dendrites and spines for synaptic plasticity. In axons, FMRP is implicated in axonal extension and axon guidance.
Masaru Takabatake, Y. Goshima, Y. Sasaki
semanticscholar +2 more sources