Results 1 to 10 of about 28,100 (214)
Fragile X mental retardation protein expression in Alzheimer’s disease [PDF]
Frontiers in Genetics, 2014 The FMR1 protein product, FMRP, is an mRNA binding protein associated with translational inhibition of target transcripts. One FMRP target is the amyloid precursor protein (APP) mRNA, and APP levels are elevated in Fmr1 KO mice. Given that elevated APP
Abigail J Renoux +4 more
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Role of microRNA Pathway in Mental Retardation [PDF]
The Scientific World Journal, 2007 Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR.
Abrar Qurashi, Shuang Chang, Peng Jin
doaj +3 more sources
Focal areas of a high rate of fragile X in Indonesia: a long term follow up [PDF]
Journal of Biomedicine and Translational Research, 2019 Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region ...
Sultana MH Faradz, Tri Indah Winarni
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The tandem Agenet domain of fragile X mental retardation protein interacts with FUS [PDF]
Scientific Reports, 2017 The tandem Agenet domain (TAD) of fragile X mental retardation protein (FMRP) protein is considered to be a member of the methyl-lysine-binding Tudor domain “Royal family”.
Qingzhong He, Wei Ge
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An “Omic” Overview of Fragile X Syndrome
Biology, 2021 Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its ...
Olivier Dionne, François Corbin
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Frontiers in Cellular Neuroscience, 2022 Fragile X syndrome (FXS) is an inherited intellectual disability caused by a deficiency in Fragile X mental retardation 1 (Fmr1) gene expression. Recent studies have proposed the importance of cytoplasmic polyadenylation element-binding protein 1 (CPEB1)
Souichi Oe +11 more
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Cardiovascular Problems in the Fragile X Premutation
Frontiers in Genetics, 2020 There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich +6 more
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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. +12 more
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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 +8 more
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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 +2 more
core +1 more source