An 11½-minute interview with researcher Stephen Tapscott explores recent findings about the molecular basis of facioscapulohumeral MD
A protein called DUX4, inappropriately produced ("expressed") in skeletal muscle fibers, is emerging as a major factor in facioscapulohumeral muscular dystrophy (FSHD).
In FSHD-affected muscles, full-length DUX4 protein disrupts numerous biochemical pathways that normally would help muscle cells survive, mature and develop specialized roles.
A protein called DUX4, normally active only during early development, probably damages FSHD-affected muscle fibers and could become a target for drug development
Little by little, the molecular underpinnings of facioscapulohumeral muscular dystrophy (FSHD) are yielding to scientific investigations. The latest revelations about a protein known as DUX4, announced in October, could bring a treatment for FSHD closer to the clinic.
About recent FSHD research
Activist and entrepeneur receives top achievement honor
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Coping with facial weakness in FSHD
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