Results 161 to 170 of about 28,649 (270)

Changes in Synaptic Protein Content and Signaling in a Mouse Model of Fragile X Syndrome [PDF]

, 2016
Fragile X Syndrome--the most common inherited form of intellectual disability--is characterized by low IQ, impaired social interaction, hyperactivity and impulsivity, and abnormal physical traits including an elongated face and protruding ears.
Birch, Kelly, Vanderklish, Peter W, PhD
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A mouse model of the human Fragile X syndrome I304N mutation.

PLoS Genetics, 2009
The mental retardation, autistic features, and behavioral abnormalities characteristic of the Fragile X mental retardation syndrome result from the loss of function of the RNA-binding protein FMRP.
Julie B Zang, Elena D Nosyreva, Corinne M Spencer, Lenora J Volk, Kiran Musunuru, Ru Zhong, Elizabeth F Stone, Lisa A Yuva-Paylor, Kimberly M Huber, Richard Paylor, Jennifer C Darnell, Robert B Darnell   +11 more
doaj   +1 more source

Fragile X Mental Retardation Protein: Nucleocytoplasmic Shuttling and Association with Somatodendritic Ribosomes [PDF]

, 1997
Yue Feng, Claire‐Anne Gutekunst, Derek E. Eberhart, Hong Yi, Stephen T. Warren, Steven M. Hersch   +5 more
openalex   +1 more source

Voltage-independent SK-channel dysfunction causes neuronal hyperexcitability in the hippocampus of Fmr1 knock-out mice [PDF]

, 2019
Neuronal hyperexcitability is one of the major characteristics of fragile X syndrome (FXS), yet the molecular mechanisms of this critical dysfunction remain poorly understood. Here we report a major role of voltage-independent potassium (
Carlin, Dan, Cavalli, Valeria, Deng, Pan-Yue, Klyachko, Vitaly A, Myrick, Leila K, Oh, Young Mi, Warren, Stephen T   +6 more
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Progress toward therapeutic potential for AFQ056 in Fragile X syndrome

Journal of Experimental Pharmacology, 2013
Mary Sourial, Connie Cheng, Laurie C Doering Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada Abstract: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading ...
Sourial M, Cheng C, Doering LC
doaj  

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. [PDF]

, 2020
BackgroundThe purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (
Abbeduto, Leonard, Banasik, Amy, Bullard, Lauren, Hagerman, Randi, Kim, Kyoungmi, McDuffie, Andrea, Nguyen, Vivian, Potter, Laura A, Potter, Sarah Nelson, Tassone, Flora, Thurman, Angela John   +10 more
core  

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

Reduced Levels of the Synaptic Functional Regulator FMRP in Dentate Gyrus of the Aging Sprague-Dawley Rat

Frontiers in Aging Neuroscience, 2017
Fragile X mental retardation protein (FMRP) encoded by Fragile X mental retardation 1 (FMR1) gene is a RNA-binding regulator of mRNA translation, transport and stability with multiple targets responsible for proper synaptic function. Epigenetic silencing
Roman Smidak, Fernando J. Sialana, Martina Kristofova, Tamara Stojanovic, Dragana Rajcic, Jovana Malikovic, Daniel D. Feyissa, Volker Korz, Harald Hoeger, Judit Wackerlig, Diana Mechtcheriakova, Gert Lubec, Gert Lubec   +12 more
doaj   +1 more source

Age-Dependent and Selective Impairment of Long-Term Potentiation in the Anterior Piriform Cortex of Mice Lacking the Fragile X Mental Retardation Protein

Journal of Neuroscience, 2005
Synaptic function and plasticity were studied in mice lacking the fragile X mental retardation protein (FMRP), a model for the fragile X mental retardation syndrome. Associational connections were studied in slices of anterior piriform (olfactory) cortex,
J. Larson, Ruth E. Jessen, Daniel Kim, A. Fine, Johann du Hoffmann   +4 more
semanticscholar   +1 more source

Elevated glycogen synthase kinase 3 activity in Fragile X mice: key metabolic regulator with evidence for treatment potential [PDF]

, 2007
Significant advances have been made in understanding the underlying defects of and developing potential treatments for Fragile X Syndrome (FXS), the most common heritable mental retardation.
Bauchwitz, Dr. Robert P.
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