Results 41 to 50 of about 28,384 (213)

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

Emerging role of the KCNT1 Slack channel in intellectual disability [PDF]

, 2014
The sodium-activated potassium KNa channels Slack and Slick are encoded by KCNT1 and KCNT2, respectively. These channels are found in neurons throughout the brain, and are responsible for a delayed outward current termed IKNa.
Grace E. Kim, Leonard K. Kaczmarek
core   +2 more sources

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

Regulation of Heart Rate in Drosophila via Fragile X Mental Retardation Protein. [PDF]

PLoS ONE, 2015
RNA binding proteins play a pivotal role in post-transcriptional gene expression regulation, however little is understood about their role in cardiac function. The Fragile X (FraX) family of RNA binding proteins is most commonly studied in the context of
Stefanie Mares Novak, Archi Joardar, Carol C Gregorio, Daniela C Zarnescu   +3 more
doaj   +1 more source

PAK in Alzheimer disease, Huntington disease and X-linked mental retardation. [PDF]

, 2012
Developmental cognitive deficits including X-linked mental retardation (XLMR) can be caused by mutations in P21-activated kinase 3 (PAK3) that disrupt actin dynamics in dendritic spines.
Cole, Greg M, Frautschy, Sally A, Ma, Qiu-Lan, Yang, Fusheng   +3 more
core   +1 more source

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

Reducing histone acetylation rescues cognitive deficits in a mouse model of Fragile X syndrome

Nature Communications, 2018
Loss of fragile X mental retardation protein (FMRP) leads to fragile X syndrome, associated with cognitive dysfunction. Here the authors show that mice lacking FMRP show reduced hippocampal neurogenesis and cognitive deficits, which can be rescued by ...
Yue Li, Michael E. Stockton, Brian E. Eisinger, Yinghua Zhao, Jessica L. Miller, Ismat Bhuiyan, Yu Gao, Zhiping Wu, Junmin Peng, Xinyu Zhao   +9 more
doaj   +1 more source

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 interacts with TDG

Chinese Science Bulletin, 2000
Fragile X syndrome is the most common form of inherited mental retardation disease, resulting from absent of expression of its disease geneFMR1. To study the function of the fragile X mental retardation protein (FMRP) through protein/protein interaction, a mouse embryo cDNA library was screened by the yeast two-hybrid system.
Yuting Chen, B. Bardoni, Ming Yu, Ning Zhu, Guanyun Wu, J. L. Mandel, Yan Shen   +6 more
openaire   +1 more source