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3 results for “Fragile X syndrome”
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AKT constitutes a signal-promoted alternative exon-junction complex that regulates nonsense-mediated mRNA decay.
Molecular cell · 2022 · 82(15): 2779-2796.e10
Despite a long appreciation for the role of nonsense-mediated mRNA decay (NMD) in destroying faulty, disease-causing mRNAs and maintaining normal, physiologic mRNA abundance, additional effectors that regulate NMD activity in mammalian cells continue to be identified. Here, we describe a …
PMID 35675814 DOI ↗
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Repeat RNA expansion disorders of the nervous system: post-transcriptional mechanisms and therapeutic strategies.
Critical reviews in biochemistry and molecular biology · 2021 · 56(1): 31-53
Dozens of incurable neurological disorders result from expansion of short repeat sequences in both coding and non-coding regions of the transcriptome. Short repeat expansions underlie microsatellite repeat expansion (MRE) disorders including myotonic dystrophy (DM1, CUG<sub>50-3,500</sub> in <i>DMPK</i>; DM2, CCTG<sub>75-11,000</sub> in …
PMID 33172304 DOI ↗
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Widespread RNA editing dysregulation in brains from autistic individuals.
Nature neuroscience · 2019 · 22(1): 25-36
Transcriptomic analyses of postmortem brains have begun to elucidate molecular abnormalities in autism spectrum disorder (ASD). However, a crucial pathway involved in synaptic development, RNA editing, has not yet been studied on a genome-wide scale. Here we profiled global patterns …
PMID 30559470 DOI ↗
Datasets 3
Widespread RNA editing dysregulation in Autism Spectrum Disorders [eCLIP-seq]
Homo sapiens · GPL20301
Widespread RNA editing dysregulation in Autism Spectrum Disorders II
Homo sapiens · GPL11154
Widespread RNA editing dysregulation in Autism Spectrum Disorders [RNA-Seq]
Homo sapiens · GPL20301
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