Article
Loss of an H3K9me anchor rescues laminopathy-linked changes in nuclear organization and muscle function in an Emery-Dreifuss muscular dystrophy model.
Genes & development - 1 Apr 2020
Harr Jennifer C, Schmid Christoph D, Muñoz-Jiménez Celia, Romero-Bueno Raquel, Kalck Véronique, Gonzalez-Sandoval Adriana, Hauer Michael H, Padeken Jan, Askjaer Peter, Mattout Anna, Gasser Susan M
Abstract excerpt
Mutations in the nuclear structural protein lamin A produce rare, tissue-specific diseases called laminopathies. The introduction of a human Emery-Dreifuss muscular dystrophy (EDMD)-inducing mutation into the C. elegans lamin (LMN-Y59C), recapitulates many muscular dystrophy phenotypes, and correlates with hyper-sequestration of a heterochromatic array at the nuclear periphery in muscle cells. Using...
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