Results 101 to 110 of about 19,643 (207)

Altered surface mGluR5 dynamics provoke synaptic NMDAR dysfunction and cognitive defects in Fmr1 knockout mice

Nature Communications, 2017
Metabotropic glutamate receptor subtype 5 (mGluR5) is crucially implicated in the pathophysiology of Fragile X Syndrome (FXS); however, its dysfunction at the sub-cellular level, and related synaptic and cognitive phenotypes are unexplored.
E. Aloisi, Katy Le Corf, J. Dupuis, Pei Zhang, M. Ginger, V. Labrousse, M. Spatuzza, Matthias Georg Haberl, L. Costa, R. Shigemoto, A. Tappe-Theodor, F. Drago, Pier Vincenzo Piazza, C. Mulle, L. Groc, L. Ciranna, M. V. Catania, A. Frick   +17 more
semanticscholar   +1 more source

EZH2 inhibition reactivates epigenetically silenced FMR1 and normalizes molecular and electrophysiological abnormalities in fragile X syndrome neurons

Frontiers in Neuroscience
Fragile X Syndrome (FXS) is a neurological disorder caused by epigenetic silencing of the FMR1 gene. Reactivation of FMR1 is a potential therapeutic approach for FXS that would correct the root cause of the disease.
Minggang Fang, Sara K. Deibler, Pranathi Meda Krishnamurthy, Feng Wang, Paola Rodriguez, Shahid Banday, Ching-Man Virbasius, Miguel Sena-Esteves, Jonathan K. Watts, Michael R. Green   +9 more
doaj   +1 more source

BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?

PLoS ONE, 2012
BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries
Andrea Weghofer, Muy-Kheng Tea, David H Barad, Ann Kim, Christian F Singer, Klaus Wagner, Norbert Gleicher   +6 more
doaj   +1 more source

Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
doaj   +1 more source

Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells

bioRxiv, 2018
Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and autism. It results from expansion of a CGG nucleotide repeat in the 5’ untranslated region of FMR1.
Jill M. Haenfler, Geena Skariah, Caitlin M. Rodriguez, André Monteiro da Rocha, J. Parent, Gary D. Smith, Peter K. Todd   +6 more
semanticscholar   +1 more source

Negative Effects of Chronic Rapamycin Treatment on Behavior in a Mouse Model of Fragile X Syndrome

Frontiers in Molecular Neuroscience, 2018
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is also highly associated with autism spectrum disorders (ASD). It is caused by expansion of a CGG repeat sequence on the X chromosome resulting in silencing of the FMR1
Rachel M. Saré, Alex Song, Inna Loutaev, Anna Cook, Isabella Maita, Abigail Lemons, Carrie Sheeler, Carolyn B. Smith   +7 more
doaj   +1 more source

Fmr1 protects cardiomyocytes against lipopolysaccharide‑induced myocardial injury

Experimental and Therapeutic Medicine, 2018
The present study explored the mechanisms by which fragile X mental retardation 1 (fmr1) overexpression inhibits lipopolysaccharide (LPS)-induced cardiomyocyte injury. Factors including oxidative stress reaction, mitochondrial membrane potential variation and cell apoptosis were evaluated.
Bao, Jiasheng, Ye, Chen, Zheng, Zhelan, Zhou, Zhengwen   +3 more
openaire   +3 more sources

CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons

Cell Reports
Summary: The human genome has many short tandem repeats, yet the normal functions of these repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene contains polymorphic CGG repeats, the length of ...
Carissa L. Sirois, Yu Guo, Meng Li, Natalie E. Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M.M. Sousa, Anita Bhattacharyya, Xinyu Zhao   +11 more
doaj   +1 more source

Changes in sensitivity of reward and motor behavior to dopaminergic, glutamatergic, and cholinergic drugs in a mouse model of fragile X syndrome.

PLoS ONE, 2013
Fragile X syndrome (FXS) is a leading cause of intellectual disability. FXS is caused by loss of function of the FMR1 gene, and mice in which Fmr1 has been inactivated have been used extensively as a preclinical model for FXS.
Eric W Fish, Michael C Krouse, Sierra J Stringfield, Jeffrey F Diberto, J Elliott Robinson, C J Malanga   +5 more
doaj   +1 more source

Abnormal hippocampal theta and gamma hypersynchrony produces network and spike timing disturbances in the Fmr1-KO mouse model of Fragile X syndrome.

Neurobiology of Disease, 2018
Neuronal networks can synchronize their activity through excitatory and inhibitory connections, which is conducive to synaptic plasticity. This synchronization is reflected in rhythmic fluctuations of the extracellular field.
T. Arbab, F. Battaglia, C. Pennartz, C. Bosman   +3 more
semanticscholar   +1 more source