Article
Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.
Cells - 31 Mar 2020
Bertrand Anne T, Brull Astrid, Azibani Feriel, Benarroch Louise, Chikhaoui Khadija, Stewart Colin L, Medalia Ohad, Ben Yaou Rabah, Bonne Gisèle
Abstract excerpt
LMNA encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form the nuclear lamina. A small fraction of Lamin A/C, less polymerized, is also found in the nucleoplasm. Lamin A/C functions include roles in nuclear resistance to mechanical stress and gene regulation. LMNA mutations are responsible for a wide variety of pathologies, including Emery-Dreifuss (EDMD)...
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