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Review

DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy

1
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G2H7, Canada
2
The Friends of Garrett Cumming Research & Muscular Dystrophy Canada, HM Toupin Neurological Science Research Chair, Edmonton, AB T6G2H7, Canada
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(3), 729; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21030729
Received: 25 December 2019 / Revised: 17 January 2020 / Accepted: 18 January 2020 / Published: 22 January 2020
Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder characterized by asymmetric, progressive muscle weakness and degeneration. Patients display widely variable disease onset and severity, and sometimes present with extra-muscular symptoms. There is a consensus that FSHD is caused by the aberrant production of the double homeobox protein 4 (DUX4) transcription factor in skeletal muscle. DUX4 is normally expressed during early embryonic development, and is then effectively silenced in all tissues except the testis and thymus. Its reactivation in skeletal muscle disrupts numerous signalling pathways that mostly converge on cell death. Here, we review studies on DUX4-affected pathways in skeletal muscle and provide insights into how understanding these could help explain the unique pathogenesis of FSHD. View Full-Text
Keywords: facioscapulohumeral muscular dystrophy; double homeobox protein 4 (DUX4); skeletal muscle; toxicity; cell death; muscle differentiation; embryonic gene expression; signalling; epigenetics facioscapulohumeral muscular dystrophy; double homeobox protein 4 (DUX4); skeletal muscle; toxicity; cell death; muscle differentiation; embryonic gene expression; signalling; epigenetics
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MDPI and ACS Style

Lim, K.R.Q.; Nguyen, Q.; Yokota, T. DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy. Int. J. Mol. Sci. 2020, 21, 729. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21030729

AMA Style

Lim KRQ, Nguyen Q, Yokota T. DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy. International Journal of Molecular Sciences. 2020; 21(3):729. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21030729

Chicago/Turabian Style

Lim, Kenji R.Q., Quynh Nguyen, and Toshifumi Yokota. 2020. "DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy" International Journal of Molecular Sciences 21, no. 3: 729. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21030729

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