Results 21 to 30 of about 14,329 (173)
FMRP-tat restores ion channel and synaptic function in a model of Fragile X Syndrome
, 2020 FFragile X Syndrome results from a loss of Fragile X Mental Retardation Protein (FMRP). In this study we combined electrophysiology, biomolecular and behavioural approaches to investigate the role of FMRP in regulating Cav3-Kv4 ion channel complex and ...
Hadhimulya Asmara (4351918) +4 more
core +1 more source
Mapping the Binding of FMRP on the Ribosome using MNase Fused to FMRP and Nanopore Sequencing [PDF]
, 2023 Fragile X syndrome (FXS) is a neurodevelopmental disorder and is the most common form of inherited intellectual disability. The multiple CGG repeats in the 5’ UTR of the Fragile X mental retardation gene 1(FMR1) lead to transcription silencing, the loss ...
Yao, Chia Yi
core
Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.
PLoS ONE, 2019 Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 repeats) in the 5' untranslated region of the fragile X mental retardation 1 ...
Kyoungmi Kim +8 more
doaj +1 more source
FMRP reguliert die Aktinzytoskelett-Reorganisation durch das Armadillo-Protein p0071 [PDF]
, 2014 Der Verlust des Fragile X Mental Retardation Protein (FMRP) verursacht synaptische Dysfunktionen und geistige Behinderung (Fragiles X Syndrom). FMRP ist ein RNA-bindendes Protein, welches die Translation und den Umsatz bestimmter mRNAs kontrolliert ...
Nolze, Alexander
core +1 more source
FMRP Interacts with C/D Box snoRNA in the Nucleus and Regulates Ribosomal RNA Methylation
iScience, 2018 Summary: FMRP is an RNA-binding protein that is known to localize in the cytoplasm and in the nucleus. Here, we have identified an interaction of FMRP with a specific set of C/D box snoRNAs in the nucleus.
Michelle Ninochka D'Souza +15 more
doaj +1 more source
RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]
, 2009 Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
core +1 more source
eLife, 2020 The sorting of RNA molecules to subcellular locations facilitates the activity of spatially restricted processes. We have analyzed subcellular transcriptomes of FMRP-null mouse neuronal cells to identify transcripts that depend on FMRP for efficient ...
Raeann Goering +7 more
doaj +1 more source
PLoS ONE, 2019 Fragile X syndrome, the most common inherited form of intellectual disability, is caused by the CGG trinucleotide expansion in the 5'-untranslated region of the Fmr1 gene on the X chromosome, which silences the expression of the fragile X mental ...
Brett DeMarco +6 more
doaj +1 more source
A novel function for fragile X mental retardation protein in translational activation.
PLoS Biology, 2009 Fragile X syndrome, the most frequent form of inherited mental retardation, is due to the absence of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in several steps of RNA metabolism.
Elias G Bechara +10 more
doaj +1 more source
PLoS ONE, 2014 Fragile X mental Retardation Protein (FMRP) is a well-known regulator of local translation of its mRNA targets in neurons. However, despite its ubiquitous expression, the role of FMRP remains ill-defined in other cell types. In this study we investigated
Mohamed S Taha +7 more
doaj +1 more source