Results 41 to 50 of about 21,934 (176)

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

Elongation Factor 2 and Fragile X Mental Retardation Protein Control the Dynamic Translation of Arc/Arg3.1 Essential for mGluR-LTD

Neuron, 2008
SUMMARY Group I metabotropic glutamate receptors (mGluR) induce long-term depression (LTD) that requires protein synthesis. Here, we demonstrate that Arc/Arg3.1 is translationally induced within 5 min of mGluR activation, and this response is essential ...
Sungjin Park, Joo-Min Park, Sangmok Kim, Jin-ah Kim, J. Shepherd, Constance Smith-Hicks, Shoaib Chowdhury, W. Kaufmann, Dietmar Kuhl, A. Ryazanov, R. Huganir, D. Linden, P. Worley   +12 more
semanticscholar   +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

HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein

Nucleic Acids Research, 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, K. Lebrigand, S. Castagnola, A. Paquet, Marielle Jarjat, A. Popa, Mauro Grossi, F. Rage, B. Bardoni   +8 more
semanticscholar   +1 more source

Role of microRNA Pathway in Mental Retardation

The Scientific World Journal, 2007
Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR.
Abrar Qurashi, Shuang Chang, Peng Jin
doaj   +1 more source

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

Neurobiology of Disease, 2008
Lack of fragile X mental retardation protein (FMRP) causes Fragile X Syndrome, the most common form of inherited mental retardation. FMRP is an RNA-binding protein and is a component of messenger ribonucleoprotein complexes, associated with brain ...
Femke M.S. de Vrij, Josien Levenga, Herma C. van der Linde, Sebastiaan K. Koekkoek, Chris I. De Zeeuw, David L. Nelson, Ben A. Oostra, Rob Willemsen   +7 more
doaj   +1 more source

Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation

Nature Communications, 2018
Fragile X syndrome patients display intellectual disability and autism, caused by mutations in the RNA-binding protein fragile X mental retardation protein (FMRP).
Anouar Khayachi, Carole Gwizdek, Gwénola Poupon, Damien Alcor, Magda Chafai, Frédéric Cassé, Thomas Maurin, Marta Prieto, Alessandra Folci, Fabienne De Graeve, Sara Castagnola, Romain Gautier, Lenka Schorova, Céline Loriol, Marie Pronot, Florence Besse, Frédéric Brau, Emmanuel Deval, Barbara Bardoni, Stéphane Martin   +19 more
doaj   +1 more source