Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures [PDF]
Neurobiology of Disease, 2013 Outside of Fragile X syndrome (FXS), the role of Fragile-X Mental Retardation Protein (FMRP) in mediating neuropsychological abnormalities is not clear.
Paul B. Bernard +5 more
doaj +3 more sources
Conformational-Dependent and Independent RNA Binding to the Fragile X Mental Retardation Protein
Journal of Nucleic Acids, 2011 The interaction between the fragile X mental retardation protein (FMRP) and BC1 RNA has been the subject of controversy. We probed the parameters of RNA binding to FMRP in several ways. Nondenaturing agarose gel analysis showed that BC1 RNA transcripts
Xin Yan, Robert B. Denman
doaj +1 more source
NMDAR mediated translation at the synapse is regulated by MOV10 and FMRP
Molecular Brain, 2019 Protein synthesis is crucial for maintaining synaptic plasticity and synaptic signalling. Here we have attempted to understand the role of RNA binding proteins, Fragile X Mental Retardation Protein (FMRP) and Moloney Leukemia Virus 10 (MOV10) protein in ...
Preeti Madhav Kute +4 more
doaj +1 more source
Elevated glycogen synthase kinase 3 activity in Fragile X mice: key metabolic regulator with evidence for treatment potential [PDF]
, 2007 Significant advances have been made in understanding the underlying defects of and developing potential treatments for Fragile X Syndrome (FXS), the most common heritable mental retardation.
Bauchwitz, Dr. Robert P.
core
Autism genetics: searching for specificity and convergence. [PDF]
, 2012 Advances in genetics and genomics have improved our understanding of autism spectrum disorders. As many genes have been implicated, we look to points of convergence among these genes across biological systems to better understand and treat these ...
Berg, Jamee M, Geschwind, Daniel H
core +1 more source
Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies.
PLoS Genetics, 2013 Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP). This RNA-binding protein, widely expressed in mammalian tissues, is particularly abundant in neurons and is a component of ...
Alain Y Dury +6 more
doaj +1 more source
Frontiers in 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 +2 more
doaj +1 more source
FMRP regulates presynaptic localization of neuronal voltage gated calcium channels
Neurobiology of Disease, 2020 Fragile X syndrome (FXS), the most common form of inherited intellectual disability and autism, results from the loss of fragile X mental retardation protein (FMRP).
Laurent Ferron +5 more
doaj +1 more source
NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]
, 2010 Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
core +2 more sources