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Current insights into LMNA cardiomyopathies: Existing models and missing LINCs

Brayson, D; Shanahan, CM; (2017) Current insights into LMNA cardiomyopathies: Existing models and missing LINCs. Nucleus , 8 (1) pp. 17-33. 10.1080/19491034.2016.1260798. Green open access

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Abstract

The nuclear lamina is a critical structural domain for the maintenance of genomic stability and whole-cell mechanics. Mutations in the LMNA gene, which encodes nuclear A-type lamins lead to the disruption of these key cellular functions, resulting in a number of devastating diseases known as laminopathies. Cardiomyopathy is a common laminopathy and is highly penetrant with poor prognosis. To date, cell mechanical instability and dysregulation of gene expression have been proposed as the main mechanisms driving cardiac dysfunction, and indeed discoveries in these areas have provided some promising leads in terms of therapeutics. However, important questions remain unanswered regarding the role of lamin A dysfunction in the heart, including a potential role for the toxicity of lamin A precursors in LMNA cardiomyopathy, which has yet to be rigorously investigated.

Type: Article
Title: Current insights into LMNA cardiomyopathies: Existing models and missing LINCs
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/19491034.2016.1260798
Publisher version: https://doi.org/10.1080/19491034.2016.1260798
Language: English
Additional information: This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License (http://creativecommons.org/licenses/by-nc-nd/ 4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way.
Keywords: LINC complex, LMNA, cardiomyocyte, cardiomyopathy, mechanotransduction, nuclear lamina, prelamin A, Animals, Cardiomyopathies, Disease Models, Animal, Heart Conduction System, Humans, Lamin Type A, Mutation
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/10067930
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