期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 21, 期 3, 页码 -出版社
MDPI
DOI: 10.3390/ijms21030729
关键词
facioscapulohumeral muscular dystrophy; double homeobox protein 4 (DUX4); skeletal muscle; toxicity; cell death; muscle differentiation; embryonic gene expression; signalling; epigenetics
资金
- Friends of Garrett Cumming Research Chair Fund
- HM Toupin Neurological Science Research Chair Fund
- Muscular Dystrophy Canada
- Canadian Institutes of Health Research (CIHR) [FDN 143251]
- University of Alberta Faculty of Medicine and Dentistry
- Women and Children's Health Research Institute (WCHRI) [IG 2874]
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.
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