| Description |
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Background: Autosomal Emery-Dreifuss muscular dystrophy is caused by
mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate
filament proteins of the nuclear envelope. Classically, the disease manifests as
scapulo-humeroperoneal muscle wasting and weakness, early joint contractures and
dilated cardiomyopathy ... read morewith conduction block; however, move variable skeletal muscle
involvement can be present. Previously, we demonstrated increased activity of
extracellular signal-regulated kinase (ERK) 1/2 in hearts of LmnaH222P/H222P mice, a
model of autosomal Emery-Dreifuss muscular dystrophy, and that blocking its
activation improved cardiac function. We therefore examined the role of ERK1/2
activity in skeletal muscle pathology.
Keywords: Muscular dystrophy, Nuclear envelope, Lamin, Selumetinib,
Mitogen-activated protein kinase.
Springer Open.read less
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| Citation |
- Muchir, Antoine, Young Jin Kim, Sarah A. Reilly, Wei Wu, Jason
C. Choi, and Howard J. Worman. "Inhibition of extracellular signal-regulated kinase
1/2 signaling has beneficial effects on skeletal muscle in a mouse model of
Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation." Skeletal Muscle
3, no. 1 (12, 2013): 1-10.
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