Articles with "lamin gene" as a keyword



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Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival

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Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddy134

Abstract: Mutations in the lamin A/C gene (LMNA) encoding the nuclear intermediate filament proteins lamins A and C cause a group of tissue-selective diseases, the most common of which is dilated cardiomyopathy (herein referred to as… read more here.

Keywords: dual specificity; specificity protein; lmna cardiomyopathy; lamin gene ... See more keywords
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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

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Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddy215

Abstract: Hyper-activation of extracellular signal-regulated kinase (ERK) 1/2 contributes to heart dysfunction in cardiomyopathy caused by mutations in the lamin A/C gene (LMNA cardiomyopathy). The mechanism of how this affects cardiac function is unknown. We show… read more here.

Keywords: cardiomyopathy caused; cofilin; cardiac actin; lamin gene ... See more keywords
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Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation

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Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddy278

Abstract: &NA; Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscle and electrical dysfunction of the heart, often leading to heart failureā€related disability.… read more here.

Keywords: adenine dinucleotide; heart; nicotinamide adenine; caused lamin ... See more keywords