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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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
openaire +2 more sources
PLoS Genetics, 2009 Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP). We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays
Yingyue Yang +6 more
doaj +1 more source
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
core +3 more sources
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
doaj +1 more source
A quantitative homogeneous assay for fragile X mental retardation 1 protein [PDF]
Journal of Neurodevelopmental Disorders, 2013 Abstract Background Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome – an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism.
Schutzius, Gabi +5 more
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Enhanced markers of oxidative stress, altered antioxidants and NADPH-oxidase activation in brains from Fragile X mental retardation 1-deficient mice, a pathological model for Fragile X syndrome. [PDF]
, 2007 Política de acceso abierto tomada de: https://v2.sherpa.ac.uk/id/publication/6992Fragile X syndrome is the most common form of inherited mental retardation in humans.
De Diego‑Otero, Yolanda +6 more
core +1 more source
Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]
, 2020 Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP +12 more
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Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction
PROTEOMICS, EarlyView.ABSTRACT Contact of Corynebacterium diphtheriae with macrophages induces adaptations on both bacterial and cellular sides. The study presented here was aiming to shed light on the simultaneous intracellular adaptation of the bacteria and changes in the proteome of the phagocytes in response to the internalization of C. diphtheriae.
Luca Musella +6 more
wiley +1 more source
Event-related potential alterations in fragile X syndrome [PDF]
, 2012 Fragile X Syndrome (FXS) is the most common form of X-linked intellectual disability (ID), associated with a wide range of cognitive and behavioral impairments.
Inga S. Knoth, Sarah Lippé
core +1 more source