Results 81 to 90 of about 172,523 (297)

Metabonomics adds a new dimension to fragile X syndrome [PDF]

, 2011
Fragile X syndrome is the most common cause of inherited intellectual disability, but the underlying pathophysiology is complex and effective treatments are lacking.
Braat, Sien, Heulens, Inge, Kooy, R Frank   +2 more
core   +2 more sources

Histone modifications and FMR role in Fragile X syndrome: A review [PDF]

, 2023
Fragile X syndrome is the most common cause of genetically acquired mental disability and one of the most frequent single-gene disorders. FXS serves as an excellent model disorder for studies investigating disturbed molecular mechanisms and synapse ...
Debarati Roy Chowdhury, Pushanjali Bhat, Salmataj S A   +2 more
core   +3 more sources

Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation.

Proceedings of the National Academy of Sciences of the United States of America, 1997
Local translation of proteins in distal dendrites is thought to support synaptic structural plasticity. We have previously shown that metabotropic glutamate receptor (mGluR1) stimulation initiates a phosphorylation cascade, triggering rapid association ...
I. Weiler, S. Irwin, A. Klintsova, C. Spencer, Anthony D. Brazelton, K. Miyashiro, T. Comery, B. Patel, J. Eberwine, W. Greenough   +9 more
semanticscholar   +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

Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome [PDF]

, 2008
Fragile X syndrome, caused by the loss of FMR1 gene function and loss of fragile X mental retardation protein (FMRP), is the most commonly inherited form of mental retardation.
Bochorishvili, G., Hu, H. L., Qin, Y., Van Aelst, L., Zhu, J. J., Zhu, Y. H.   +5 more
core   +1 more source

Metabotropic Glutamate Receptor Activation Regulates Fragile X Mental Retardation Protein and Fmr1 mRNA Localization Differentially in Dendrites and at Synapses

Journal of Neuroscience, 2004
Fragile X syndrome is caused by the absence of the mRNA-binding protein Fragile X mental retardation protein (FMRP), which may play a role in activity-regulated localization and translation of mRNA in dendrites and at synapses.
L. Antar, Rownak Afroz, J. Dictenberg, R. Carroll, G. Bassell   +4 more
semanticscholar   +1 more source

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   +3 more sources

The Drosophila fragile X mental retardation protein participates in the piRNA pathway [PDF]

Journal of Cell Science, 2015
ABSTRACT RNA metabolism controls multiple biological processes, and a specific class of small RNAs, called piRNAs, act as genome guardians by silencing the expression of transposons and repetitive sequences in the gonads. Defects in the piRNA pathway affect genome integrity and fertility.
BOZZETTI, Maria Giuseppina, SPECCHIA, Valeria, Cattenoz, Pierre B, Laneve, Pietro, Geusa, Annamaria, Sahin, Bahar H, Di Tommaso, Silvia, Friscini, Antonella, MASSARI, SERAFINA, Diebold, Céline, Giangrande, Angela   +10 more
openaire   +4 more sources

Aging, Fragility and Reversibility Window in Bulk Alloy Glasses [PDF]

J. Phys. Condens. Matter, 17, L1-L7 (2005), 2007
Non-reversing relaxation enthalpies (DHnr) at glass transitions Tg(x) in the PxGexSe1-2x ternary display wide, sharp and deep global minima (~ 0) in the 0.09 < x < 0.145 range, within which Tgs become thermally reversing. In this reversibility window, glasses are found not to age, in contrast to aging observed for fragile glass compositions outside the
arxiv   +1 more source

Fragile X mental retardation protein regulates trans-synaptic signaling in Drosophila

Disease Models & Mechanisms, 2013
SUMMARY Fragile X syndrome (FXS), the most common inherited determinant of intellectual disability and autism spectrum disorders, is caused by loss of the fragile X mental retardation 1 (FMR1) gene product (FMRP), an mRNA-binding translational repressor.
Samuel H. Friedman, Neil Dani, Emma Rushton, Kendal Broadie   +3 more
doaj   +1 more source