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Article

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy

15 Jan 2019

Abstract excerpt

DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). DUX4's transcriptional activity has been extensively characterized, but the DUX4-induced proteome remains undescribed. Here, we report concurrent measurement of RNA and protein levels in DUX4-expressing cells via RNA-seq and quantitative mass spectrometry. DUX4 transcriptional targets were...

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PMID: 30644821
DOI: 10.7554/elife.41740

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Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophyPMID 30644821Read ↗

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of FSHDSemantic proximity Read ↗

Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosomeSemantic proximity Read ↗

Single-myofiber RNA-sequencing reveals myofiber-level transcriptomic heterogeneity and DUX4 activation in FSHD muscle biopsiesSemantic proximity Read ↗

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FRG1 Regulates Nonsense-Mediated mRNA Decay by Modulating UPF1 LevelsSemantic proximity Read ↗

Truncated RNA-binding protein production by DUX4-induced systemic inhibition of nonsense-mediated RNA decaySemantic proximity Read ↗

FSHD myotubes with different phenotypes exhibit distinct proteomes.Semantic proximity Read ↗

Posttranslational modifications of the DUX4 protein impact toxic functionSemantic proximity Read ↗

Facioscapulohumeral Muscular Dystrophy is Associated With Altered Myoblast Proteome DynamicsSemantic proximity Read ↗

Rapid UPF1 depletion illuminates the temporal dynamics of the NMD-regulated transcriptome in human cellsSemantic proximity Read ↗

Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4Semantic proximity Read ↗

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.Semantic proximity Read ↗

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