Results 91 to 100 of about 21,934 (176)

Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model

Neurobiology of Disease, 2006
It is still unclear why absence of the fragile X protein (FMRP) leads to mental retardation and specific behavioral problems. In neurons, the protein transports specific mRNAs towards the actively translating ribosomes near the synapses.To unravel the ...
Ilse Gantois, Jo Vandesompele, Frank Speleman, Edwin Reyniers, Rudi D'Hooge, Lies-Anne Severijnen, Rob Willemsen, Flora Tassone, R. Frank Kooy   +8 more
doaj   +1 more source

Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila

Biology Open, 2012
Summary FMRP is an evolutionarily conserved protein that is highly expressed in neurons and its deficiency causes fragile X mental retardation syndrome.
Cristina Gareau, David Martel, Laetitia Coudert, Samia Mellaoui, Rachid Mazroui   +4 more
doaj   +1 more source

Fragile X Mental Retardation Protein Regulates the Levels of Scaffold Proteins and Glutamate Receptors in Postsynaptic Densities*

Journal of Biological Chemistry, 2009
Functional absence of fragile X mental retardation protein (FMRP) causes the fragile X syndrome, a hereditary form of mental retardation characterized by a change in dendritic spine morphology.
Janin Schütt, K. Falley, D. Richter, H. Kreienkamp, S. Kindler   +4 more
semanticscholar   +1 more source

Clinical, molecular, and pharmacological aspects of FMR1-related disorders

Neurología (English Edition), 2017
Background: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family.
A. Pugin, V. Faundes, L. Santa María, B. Curotto, S. Aliaga, I. Salas, P. Soto, P. Bravo, M.I. Peña, M.A. Alliende   +9 more
doaj   +1 more source

The development of cortical columns: role of Fragile X mental retardation protein [PDF]

The Journal of Physiology, 2009
Neuronal circuits in the brain are complex and precise. Here, I review aspects of the development of cortical columns in the rodent barrel cortex, focusing on the anatomical and functional data describing the maturation of ascending glutamatergic circuits.
openaire   +3 more sources

Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil

Neurología, 2017
Resumen: Introducción: El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia.
A. Pugin, V. Faundes, L. Santa María, B. Curotto, S. Aliaga, I. Salas, P. Soto, P. Bravo, M.I. Peña, M.A. Alliende   +9 more
doaj   +1 more source

Fragile X Syndrome and Targeted Treatments

Journal of Biomedicine and Translational Research, 2020
Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich, Ana María Cabal-Herrera, Maria Jimena Salcedo-Arellano, Randi Jenssen Hagerman   +3 more
doaj   +1 more source

Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective

Brain Sciences, 2018
Fragile X syndrome (FXS) is the leading known cause of inherited intellectual disability and autism spectrum disorder. It is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene, resulting in a deficit of fragile X mental retardation ...
Anna W. Lee, Pamela Ventola, Dejan Budimirovic, Elizabeth Berry-Kravis, Jeannie Visootsak   +4 more
doaj   +1 more source

Fragile X Mental Retardation Protein in Learning-Related Synaptic Plasticity

Molecules and Cells, 2009
Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP) due to silencing of the Fmr1 gene. As an RNA binding protein, FMRP is thought to contribute to synaptic plasticity by regulating plasticity-related protein synthesis and other signaling pathways.
Valentina, Mercaldo, Giannina, Descalzi, Min, Zhuo   +2 more
openaire   +2 more sources

Characterization of Fragile X Mental Retardation Protein expression in human nociceptors and their axonal projections to the spinal dorsal horn. [PDF]

J Comp Neurol, 2023
Mitchell ME, Cook LC, Shiers S, Tavares-Ferreira D, Akopian AN, Dussor G, Price TJ.   +6 more
europepmc   +1 more source