PLoS ONE, 2012 Fragile X syndrome (FXS) is a well-recognized form of inherited mental retardation, caused by a mutation in the fragile X mental retardation 1 (Fmr1) gene.
Snigdha Roy, Nick Watkins, Detlef Heck
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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
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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 +9 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 +6 more
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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 +3 more
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The fragile X mental retardation protein has nucleic acid chaperone properties [PDF]
Nucleic Acids Research, 2004 The fragile X syndrome is the most common cause of inherited mental retardation resulting from the absence of the fragile X mental retardation protein (FMRP). FMRP contains two K-homology (KH) domains and one RGG box that are landmarks characteristic of RNA-binding proteins.
Caroline, Gabus +4 more
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DNA methylation and trinucleotide repeat expansion diseases [PDF]
, 2012 Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
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Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome. [PDF]
, 2012 Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing.
Borodyanskara, Mariya +3 more
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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 +2 more
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Hair root FMRP expression for screening of fragile X full mutation females
Universa Medicina, 2016 The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome.
Lantip Rujito +5 more
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