Article
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.
Journal of neuromuscular diseases - 29 Nov 2016
Ziat Esma, Mamchaoui Kamel, Beuvin Maud, Nelson Isabelle, Azibani Feriel, Spuler Simone, Bonne Gisèle, Bertrand Anne T
Abstract excerpt
BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is associated with mutations in EMD and LMNA genes, encoding for the nuclear envelope proteins emerin and lamin A/C, indicating that EDMD is a nuclear envelope disease. We recently reported mutations in FHL1 gene in X-linked EDMD. FHL1 encodes FHL1A, and the two minor isoforms FHL1B and FHL1C. So far, none have been described at the nuclear envelope. OBJECTIVE:...
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