U of M Researchers Allow FSHD Patients to See What DUX4 Protein Looks Like

"New research by University of Minnesota scientists has revealed the three dimensional structure of the DUX4 protein, which is responsible for the disease, facioscapulohumeral muscular dystrophy (FSHD). Unlike the majority of genetic diseases, FSHD is not caused by a protein that is missing or not functioning properly. Rather it is caused when a functioning, normal, protein shows up in a place where it doesn’t belong (in muscles)."

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See also the grants that helped fund this research:

Crystallization of DUX4 for Structure Analysis

Structural studies of DUX4-DNA interaction