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.
Andreas Weiss +5 more
openaire +3 more sources
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
PLoS Genetics, 2016 Local translation at the synapse plays key roles in neuron development and activity-dependent synaptic plasticity. mRNAs are translocated from the neuronal soma to the distant synapses as compacted ribonucleoparticles referred to as RNA granules.
Rachid El Fatimy +7 more
semanticscholar +1 more source
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
doaj +1 more source
Toward Fulfilling the Promise of Molecular Medicine in Fragile X [PDF]
, 2010 Fragile X syndrome (FXS) is the most common inherited form of mental retardation and a leading known cause of autism. It is caused by loss of expression of the fragile X mental retardation protein (FMRP), an RNA-binding protein that negatively regulates ...
Bakker CE +10 more
core +1 more source
Field-mediated interactions of passive and conformation-active particles: multibody and retardation effects [PDF]
arXiv, 2021 Particles in soft matter often interact through the deformation field they create, as in the "cheerios" effect or the curvature-mediated interactions of membrane proteins. Using a simple model for field-mediated interactions between passive particles, or active particles that switch conformation randomly or synchronously, we derive generic results ...
arxiv
Fragile Phases As Affine Monoids: Classification and Material Examples [PDF]
Phys. Rev. X 10, 031001 (2020), 2019 Topological phases in electronic structures contain a new type of topology, called fragile, which can arise, for example, when an Elementary Band Representation (Atomic Limit Band) splits into a particular set of bands. We obtain, for the first time, a complete classification of the fragile topological phases which can be diagnosed by symmetry ...
arxiv +1 more source
Proteomic analyses of nucleus laminaris identified candidate targets of the fragile X mental retardation protein [PDF]
J Comp Neurol, 2017 Hitomi Sakano +7 more
openalex +2 more sources
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.
Charles A. Hoeffer +3 more
openaire +3 more sources
Multiplex networks quantify robustness of the mental lexicon to catastrophic concept failures, aphasic degradation and ageing [PDF]
, 2020 Concepts and their mental associations influence how language is processed and used. Networks represent powerful models for exploring such cognitive system, known as mental lexicon. This study investigates lexicon robustness to progressive word failure with multiplex network attacks.
arxiv +1 more source