Publications by authors named "Nancy A Karreman"
Hum Mol Genet
December 2019
Article Synopsis
- The DUX4 transcription factor is essential for early embryonic development but becomes toxic when misexpressed in skeletal muscle, leading to facioscapulohumeral muscular dystrophy (FSHD).
- The study identifies that DUX4-induced toxicity involves the production of double-stranded RNAs (dsRNAs) that come from specific genomic elements like inverted Alu repeats and human satellite II (HSATII) repeats.
- Findings reveal that DUX4 triggers the transcription of HSATII repeats in muscle cells, which contributes to cell death, highlighting the role of these dsRNAs in the pathology of FSHD.
