Clothilde Claus, Moriya Slavin, Eugénie Ansseau, Céline Lancelot, Karimatou Bah, Saskia Lassche, Manon Fiévet, Anna Greco, Sara Tomaiuolo, Alexandra Tassin, Virginie Dudome, Benno Kusters, Anne-Emilie Declèves, Dalila Laoudj-Chenivesse, Baziel G M van Engelen, Denis Nonclercq, Alexandra Belayew, Nir Kalisman, Frédérique Coppée
BACKGROUND: We have previously demonstrated that double homeobox 4 centromeric (DUX4C) encoded for a functional DUX4c protein upregulated in dystrophic skeletal muscles. Based on gain- and loss-of-function studies we have proposed DUX4c involvement in muscle regeneration. Here, we provide further evidence for such a role in skeletal muscles from patients affected with facioscapulohumeral muscular dystrophy (FSHD). METHODS: DUX4c was studied at RNA and protein levels in FSHD muscle cell cultures and biopsies...
March 7, 2023: Skeletal Muscle