Results 21 to 30 of about 28,384 (213)

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

Molecular Insights into Mental Retardation: Multiple Functions for the Fragile X Mental Retardation Protein? [PDF]

Current Issues in Molecular Biology, 2004
Mental retardation is a frequent cause of intellectual and physical impairment. Several genes associated with mental retardation have been mapped to the X chromosome, among them, there is FMR1. The absence of or mutation in the Fragile Mental Retardation Protein, FMRP, is responsible for the Fragile X syndrome.
Zalfa, F., Bagni, Claudia
openaire   +5 more sources

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

Are physiological oscillations physiological?

The Journal of Physiology, EarlyView., 2023
Abstract figure legend Mechanisms and functions of physiological oscillations. Abstract Despite widespread and striking examples of physiological oscillations, their functional role is often unclear. Even glycolysis, the paradigm example of oscillatory biochemistry, has seen questions about its oscillatory function.
Lingyun (Ivy) Xiong, Alan Garfinkel
wiley   +1 more source

The microRNA pathway and fragile X mental retardation protein [PDF]

Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 2008
Fragile X syndrome, one of the most common forms of inherited mental retardation, is caused by the functional loss of fragile X mental retardation protein (FMRP). MicroRNAs (miRNAs), a newly discovered class of small noncoding RNAs, have been implicated in multiple biological processes through posttranscriptional gene regulation.
Yujing, Li, Li, Lin, Peng, Jin
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. In one model, it has been
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
openaire   +7 more sources

Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome [PDF]

, 2012
Fragile X syndrome, the most commonly known genetic cause of autism, is due to loss of the fragile X mental retardation protein, which regulates signal transduction at metabotropic glutamate receptor-5 in the brain.
DiPatrizio, Nicholas V., Frick, Andreas, Ginger, Melanie, Henstridge, Christopher M., Jung, Kwang-Mook, Katona, Istvan, Lassalle, Olivier, Mackie, Ken, Manzoni, Olivier J., Martin, Henry, Neuhofer, Daniela, Piomelli, Daniele, Sepers, Marja   +12 more
core   +6 more sources

Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome [PDF]

, 2011
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. In addition to cognitive deficits, FXS patients exhibit hyperactivity, attention deficits, social difficulties, anxiety, and other autistic-like behaviors.
A Bhattacharyya, A Maddalena, A Urbach, CJ Bontekoe, CJ Bontekoe, CT Ashley Jr, D Kumari, D Kumari, D Wohrle, DC Crawford, DH Geschwind, F Tassone, Fen Zhou, FO Walker, H Siomi, I Oberle, IH Park, J Itskovitz-Eldor, J Tost, Jeanne F. Loring, Jon M. Madison, JP Martin, JS Godde, JS Sutcliffe, K Brakensiek, K Braun, K Takahashi, Kraig M. Theriault, L Montermini, Laurence Daheron, LF Meisner, LL Rubin, LN Antar, M Castren, M Castren, Mark R. Cookson, N Maherali, O Penagarikano, R Eiges, RJ Hagerman, S Abraham, S Datta, S Jacquemont, S Ku, SD Sheridan, SL Nolin, Stephen J. Haggarty, Steven D. Sheridan, Surya A. Reis, V Campuzano, Y Feng, Y Luo, Y Soneoka   +52 more
core   +11 more sources

Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]

, 2014
Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J, Hare, Emma B, Lozano, Reymundo   +2 more
core   +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