Parker, F, Baboolal, TG and Peckham, M orcid.org/0000-0002-3754-2028 (2020) Actin Mutations and Their Role in Disease. International Journal of Molecular Sciences, 21 (9). 3371. ISSN 1661-6596
Abstract
Actin is a widely expressed protein found in almost all eukaryotic cells. In humans, there are six different genes, which encode specific actin isoforms. Disease-causing mutations have been described for each of these, most of which are missense. Analysis of the position of the resulting mutated residues in the protein reveals mutational hotspots. Many of these occur in regions important for actin polymerization. We briefly discuss the challenges in characterizing the effects of these actin mutations, with a focus on cardiac actin mutations.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
Keywords: | Actin; mutation; polymerization; myosin |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Biological Sciences (Leeds) > School of Molecular and Cellular Biology (Leeds) > Cell Biology (Leeds) |
Depositing User: | Symplectic Publications |
Date Deposited: | 15 May 2020 11:07 |
Last Modified: | 08 Jun 2020 14:01 |
Status: | Published |
Publisher: | MDPI |
Identification Number: | 10.3390/ijms21093371 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:160453 |