NIH R01 · 2025
To explore the molecular and cellular effects of transient DUX4 expression in skeletal muscle
Abstract Facioscapulohumeral muscular dystrophy (FSHD), is one of the most prevalent neuromuscular genetic disorders, and it is caused by a loss of epigenetic repression of the D4Z4 repeats at chromosome 4 that then leads to loss of silencing of DUX4. One of the most mysterious aspects of FSHD is the timing and the extent of the DUX4 expression. Levels of DUX4 in the affected muscles are either extremely low and/or transient as attempts to date have failed to detect the protein in situ. Evidence of DUX4 expression is indirect, based on elevated DUX4 target genes in MRI-guided biopsies from FSHD patients. We developed an FSHD mouse model (iDUX4pA;HSA) that allows conditional expression of…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.