Results 21 to 30 of about 16,335 (162)
Focal areas of a high rate of fragile X in Indonesia: a long term follow up
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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Role of microRNA Pathway in Mental Retardation
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
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Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice
Neurobiology of Disease, 2008 Lack of fragile X mental retardation protein (FMRP) causes Fragile X Syndrome, the most common form of inherited mental retardation. FMRP is an RNA-binding protein and is a component of messenger ribonucleoprotein complexes, associated with brain ...
Femke M.S. de Vrij +7 more
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Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation
Nature Communications, 2018 Fragile X syndrome patients display intellectual disability and autism, caused by mutations in the RNA-binding protein fragile X mental retardation protein (FMRP).
Anouar Khayachi +19 more
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A nuclear role for the Fragile X mental retardation protein. [PDF]
The EMBO Journal, 1996 Fragile X syndrome results from lack of expression of a functional form of Fragile X mental retardation protein (FMRP), a cytoplasmic RNA-binding protein of uncertain function. Here, we report that FMRP contains a nuclear export signal (NES) that is similar to the NES recently identified in the Rev regulatory protein of human immunodeficiency virus ...
R A, Fridell +4 more
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Fragile X mental retardation protein regulates trans-synaptic signaling in Drosophila
Disease Models & Mechanisms, 2013 SUMMARY Fragile X syndrome (FXS), the most common inherited determinant of intellectual disability and autism spectrum disorders, is caused by loss of the fragile X mental retardation 1 (FMR1) gene product (FMRP), an mRNA-binding translational repressor.
Samuel H. Friedman +3 more
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The Drosophila fragile X mental retardation protein participates in the piRNA pathway [PDF]
Journal of Cell Science, 2015 ABSTRACT RNA metabolism controls multiple biological processes, and a specific class of small RNAs, called piRNAs, act as genome guardians by silencing the expression of transposons and repetitive sequences in the gonads. Defects in the piRNA pathway affect genome integrity and fertility.
Bozzetti, Maria Pia +11 more
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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 +3 more
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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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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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