Results 91 to 100 of about 28,649 (270)
Journal of Neuroscience, 2004 Fragile X syndrome is caused by the absence of the mRNA-binding protein Fragile X mental retardation protein (FMRP), which may play a role in activity-regulated localization and translation of mRNA in dendrites and at synapses.
L. Antar +4 more
semanticscholar +1 more source
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
core +1 more source
FMRP regulates GABAA receptor channel activity to control signal integration in hippocampal granule cells [PDF]
, 2022 Fragile X syndrome, the most common inherited form of intellectual disability, is caused by loss of fragile X mental retardation protein (FMRP). GABAergic system dysfunction is one of the hallmarks of FXS, yet the underlying mechanisms remain poorly ...
Cavalli, Valeria +3 more
core +2 more sources
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
doaj +1 more source
Selective Role of the Catalytic PI3K Subunit p110β in Impaired Higher Order Cognition in Fragile X Syndrome [PDF]
, 2015 SummaryDistinct isoforms of the PI3K catalytic subunit have specialized functions in the brain, but their role in cognition is unknown. Here, we show that the catalytic subunit p110β plays an important role in prefrontal cortex (PFC)-dependent cognitive ...
Allen, Amanda G. +8 more
core +6 more sources
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
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
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
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
core +2 more sources
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