Results 31 to 40 of about 28,100 (214)

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

Toward Fulfilling the Promise of Molecular Medicine in Fragile X [PDF]

, 2010
Fragile X syndrome (FXS) is the most common inherited form of mental retardation and a leading known cause of autism. It is caused by loss of expression of the fragile X mental retardation protein (FMRP), an RNA-binding protein that negatively regulates ...
Bakker CE, Bear MF, Berry-Kravis E, Bienenstock E, Dilja D. Krueger, Huber KM, Lubs H, Mark F. Bear, Merlin LR, Raymond CR, Wiesel T   +10 more
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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

Le syndrome de l'X fragile : Une protéine absente et 1001 ARNm déboussolés [PDF]

, 2006
Le syndrome du X fragile, première cause de retard mental héréditaire, est une maladie monogénique liée au chromosome X. Le syndrome est causé par l’inactivation du gène Fragile Mental Retardation 1(FMR1) entraînant l’absence de la protéine FMRP dont le ...
Davidovic, Laetitia, De Koninck, Paul, Gravel, Maud, Khandjian, Edward W. Miky, Tremblay, Sandra   +4 more
core   +1 more source

GABAB receptor upregulates fragile X mental retardation protein expression in neurons [PDF]

Scientific Reports, 2015
AbstractFragile X mental retardation protein (FMRP) is an RNA-binding protein important for the control of translation and synaptic function. The mutation or silencing of FMRP causes Fragile X syndrome (FXS), which leads to intellectual disability and social impairment.
Wenhua Zhang, Chanjuan Xu, Haijun Tu, Yunyun Wang, Qian Sun, Ping Hu, Yongjian Hu, Philippe Rondard, Jianfeng Liu   +8 more
openaire   +2 more sources

Synaptic vesicle dynamic changes in a model of fragile X [PDF]

, 2016
__Background:__ Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by an expansion of trinucleotide
Bahn, S. (Sabine), Broek, A.C. (Jantine), Cappellen, W.A. (Gert) van, Cox, D. (David), Gruiter, H.M. (H. Martijn) de, Haasdijk, E.D. (Elize), Houtsmuller, A.B. (Adriaan), Lin, Z. (Zhanmin), Ozcan, S. (Sureyya), Spijker, H. (Heleen) van 't, Willemsen, R. (Rob), Zeeuw, C.I. (Chris) de   +11 more
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Fragile X Mental Retardation Protein in the Driver's Seat [PDF]

Cerebral Cortex, 2009
Fragile X syndrome (FXS), the most common single gene cause of mental retardation, is securely associated with mutations in the fragile X mental retardation 1 gene, FMR1 (Fu et al. 1991; Verkerk et al. 1991; Feng et al. 1997; Musumeci et al. 1999; Hagerman et al. 2009). Nevertheless, identification of consequences of loss of the protein product of FMR1,
openaire   +2 more sources

Fragile X Mental Retardation Protein FMRP Binds mRNAs in the Nucleus [PDF]

Molecular and Cellular Biology, 2009
The fragile X mental retardation protein FMRP is an RNA binding protein that associates with a large collection of mRNAs. Since FMRP was previously shown to be a nucleocytoplasmic shuttling protein, we examined the hypothesis that FMRP binds its cargo mRNAs in the nucleus.
Miri, Kim, Michel, Bellini, Stephanie, Ceman   +2 more
openaire   +2 more sources

Selective Role of the Catalytic PI3K Subunit p110β in Impaired Higher Order Cognition in Fragile X Syndrome [PDF]

, 2015
SummaryDistinct isoforms of the PI3K catalytic subunit have specialized functions in the brain, but their role in cognition is unknown. Here, we show that the catalytic subunit p110β plays an important role in prefrontal cortex (PFC)-dependent cognitive ...
Allen, Amanda G., Bassell, Gary J., Gibson, Jay R., Gourley, Shannon L., Gross, Christina, Huber, Kimberly M., Molinaro, Gemma, Raj, Nisha, Whyte, Alonzo J.   +8 more
core   +6 more sources

Fragile X mental retardation protein regulates heterosynaptic plasticity in the hippocampus [PDF]

Learning & Memory, 2011
Silencing of a single gene, FMR1, is linked to a highly prevalent form of mental retardation, characterized by social and cognitive impairments, known as fragile X syndrome (FXS). The FMR1 gene encodes fragile X mental retardation protein (FMRP), which negatively regulates translation.
Steven A, Connor, Charles A, Hoeffer, Eric, Klann, Peter V, Nguyen   +3 more
openaire   +2 more sources