Results 31 to 40 of about 11,078,474 (189)

Fragile X Mental Retardation Protein and the Ribosome [PDF]

Molecular Cell, 2014
In this issue of Molecular Cell, Chen et al. (2014) provide evidence that FMRP represses translation by binding the ribosome, suggesting a novel form of translational control.
Harigaya, Yuriko, Parker, Roy
openaire   +2 more sources

On BC1 RNA and the fragile X mental retardation protein [PDF]

Proceedings of the National Academy of Sciences, 2008
The fragile X mental retardation protein (FMRP), the functional absence of which causes fragile X syndrome, is an RNA-binding protein that has been implicated in the regulation of local protein synthesis at the synapse. The mechanism of FMRP's interaction with its target mRNAs, however, has remained controversial.
Anna, Iacoangeli, Timofey S, Rozhdestvensky, Natalia, Dolzhanskaya, Barthélémy, Tournier, Janin, Schütt, Jürgen, Brosius, Robert B, Denman, Edouard W, Khandjian, Stefan, Kindler, Henri, Tiedge   +9 more
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Fragile X Mental Retardation Syndrome: Structure of the KH1-KH2 Domains of Fragile X Mental Retardation Protein [PDF]

Structure, 2007
Fragile X syndrome is the most common form of inherited mental retardation in humans, with an estimated prevalence of about 1 in 4000 males. Although several observations indicate that the absence of functional Fragile X Mental Retardation Protein (FMRP) is the underlying basis of Fragile X syndrome, the structure and function of FMRP are currently ...
Valverde, Roberto, Pozdnyakova, Irina, Kajander, Tommi, Venkatraman, Janani, Regan, Lynne   +4 more
openaire   +2 more sources

Cytoplasmic Polyadenylation Element-Binding Protein 1 Post-transcriptionally Regulates Fragile X Mental Retardation 1 Expression Through 3′ Untranslated Region in Central Nervous System Neurons

Frontiers in Cellular Neuroscience, 2022
Fragile X syndrome (FXS) is an inherited intellectual disability caused by a deficiency in Fragile X mental retardation 1 (Fmr1) gene expression. Recent studies have proposed the importance of cytoplasmic polyadenylation element-binding protein 1 (CPEB1)
Souichi Oe, Shinichi Hayashi, Susumu Tanaka, Taro Koike, Yukie Hirahara, Ryohei Seki-Omura, Rio Kakizaki, Sumika Sakamoto, Yosuke Nakano, Yasuko Noda, Hisao Yamada, Masaaki Kitada   +11 more
doaj   +1 more source

Fragile X mental retardation protein and synaptic plasticity [PDF]

Molecular Brain, 2013
Abstract Loss of the translational repressor FMRP causes Fragile X syndrome. In healthy neurons, FMRP modulates the local translation of numerous synaptic proteins. Synthesis of these proteins is required for the maintenance and regulation of long-lasting changes in synaptic strength.
Sidorov, Michael Samuel, Auerbach, Benjamin David, Bear, Mark   +2 more
openaire   +4 more sources

Cardiovascular Problems in the Fragile X Premutation

Frontiers in Genetics, 2020
There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich, Nattaporn Tassanakijpanich, Jonathan Cohen, Rashelle Cohen, Uma N. Srivatsa, Randi J. Hagerman, Randi J. Hagerman   +6 more
doaj   +1 more source

FMRP(1–297)-tat restores ion channel and synaptic function in a model of Fragile X syndrome

Nature Communications, 2020
Fragile X Mental Retardation Protein regulates synaptic plasticity and its loss results in Fragile X Syndrome. Here, the authors show that the FMRP(1-297)-tat peptide can permeate the BBB, restore protein translation and mossy fiber LTP, and reduce ...
Xiaoqin Zhan, Hadhimulya Asmara, Ning Cheng, Giriraj Sahu, Eduardo Sanchez, Fang-Xiong Zhang, Gerald W. Zamponi, Jong M. Rho, Ray W. Turner   +8 more
doaj   +1 more source

FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission

PLoS Biology, 2023
Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function (GoF) and loss-of-function (LoF), respectively.
Shannon N. Leahy, Chunzhu Song, Dominic J. Vita, Kendal Broadie   +3 more
doaj   +2 more sources

Focal areas of a high rate of fragile X in Indonesia: a long term follow up

Journal of Biomedicine and Translational Research, 2019
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region ...
Sultana MH Faradz, Tri Indah Winarni
doaj   +1 more source

Cellular distribution of the fragile X mental retardation protein in the mouse brain. [PDF]

J Comp Neurol, 2017
ABSTRACTThe fragile X mental retardation protein (FMRP) plays an important role in normal brain development. Absence of FMRP results in abnormal neuronal morphologies in a selected manner throughout the brain, leading to intellectual deficits and sensory dysfunction in the fragile X syndrome (FXS). Despite FMRP importance for proper brain function, its
Zorio DA, Jackson CM, Liu Y, Rubel EW, Wang Y.   +4 more
europepmc   +4 more sources