Key result
Advances in understanding the molecular basis of facioscapulohumeral dystrophy, specifically aberrant DUX4 expression, have led to multiple therapeutic strategies entering clinical trials.
Understanding the role of aberrant DUX4 expression in FSHD has paved the way for new therapeutic strategies currently entering clinical trials.
locus and result in aberrant expression of this transcription factor in skeletal muscles. DUX4 expression in these skeletal muscles reactivates part of the early totipotent program and suppresses the muscle program-resulting in a progressive muscular dystrophy that affects some muscles earlier than others. These advances in understanding the cause of FSHD have led to multiple therapeutic strategies that are now entering clinical trials.
No takes yet. Share an insight, caveat, or question.
Arends et al. (2024) conducted a review in Facioscapulohumeral Dystrophy. Advances in understanding the molecular basis of facioscapulohumeral dystrophy, specifically aberrant DUX4 expression, have led to multiple therapeutic strategies entering clinical trials.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: