Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

Authors

• Sara M Fielder, Washington University School of Medicine in St. Louis
• Jessie R Zhang, Washington University School of Medicine in St. Louis
• Liana M Valin, Washington University School of Medicine in St. Louis
• Tara Samson, Washington University School of Medicine in St. Louis
• Sarah Govert, Washington University School of Medicine in St. Louis
• Sara DaCunha, Washington University School of Medicine in St. Louis
• Weimin Yuan, Washington University School of Medicine in St. Louis
• Jian Chen, Washington University School of Medicine in St. Louis
• Jacob Lesinski, Washington University School of Medicine in St. Louis
• Hieu Hoang, Washington University School of Medicine in St. Louis
• Stephanie A Morrison, Washington University School of Medicine in St. Louis
• Eric Tycksen, Washington University School of Medicine in St. Louis
• Dustin Baldridge, Washington University School of Medicine in St. Louis
• Gary A Silverman, Washington University School of Medicine in St. Louis
• Lisa Emrick, Washington University School of Medicine in St. Louis
• William J Craigen, Washington University School of Medicine in St. Louis
• Stephen M Sykes, Washington University School of Medicine in St. Louis
• Tim Schedl, Washington University School of Medicine in St. Louis
• Stephen C Pak, Washington University School of Medicine in St. Louis
• et al.

Journal

EMBO Molecular Medicine

Publication Date

10-1-2025

Volume

17

Issue

10

First Page

2562

Last Page

2585

Document Type

Open Access Publication

DOI

10.1038/s44321-025-00290-8

Rights and Permissions

Fielder SM, Friederich MW, Hock DH, Zhang JR, Valin LM, Rosenfeld JA, Booth KTA, Brown NJ, Rius R, Sharma T, Semcesen LN, Worley KC, Burrage LC, Treat K, Samson T, Govert S, DaCunha S, Yuan W, Chen J, Lesinski J, Hoang H, Morrison SA, Ladha FA, Van Hove RA, Michel CR, Reisdorph R, Tycksen E, Baldridge D, Silverman GA, Soler-Alfonso C, Conboy E, Vetrini F, Emrick L, Craigen WJ; Undiagnosed Diseases Network; Sykes SM, Stroud DA, Van Hove JLK, Schedl T, Pak SC. Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders. EMBO Mol Med. 2025 Oct;17(10):2562-2585. doi: 10.1038/s44321-025-00290-8. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. Creative Commons Public Domain Dedication waiver http://creativecommons.org/publicdomain/zero/1.0/ applies to the data associated with this article, unless otherwise stated in a credit line to the data, but does not extend to the graphical or creative elements of illustrations, charts, or figures. This waiver removes legal barriers to the re-use and mining of research data. According to standard scholarly practice, it is recommended to provide appropriate citation and attribution whenever technically possible. Copyright: The Author(s)

Recommended Citation

Fielder, Sara M; Zhang, Jessie R; Valin, Liana M; Samson, Tara; Govert, Sarah; DaCunha, Sara; Yuan, Weimin; Chen, Jian; Lesinski, Jacob; Hoang, Hieu; Morrison, Stephanie A; Tycksen, Eric; Baldridge, Dustin; Silverman, Gary A; Emrick, Lisa; Craigen, William J; Sykes, Stephen M; Schedl, Tim; Pak, Stephen C; and et al., "Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders." EMBO Molecular Medicine. 17, 10. 2562 - 2585. (2025).
https://digitalcommons.wustl.edu/oa_4/7172

Department

ICTS (Institute of Clinical and Translational Sciences)

Additional Links

Supplemental material is available for this article at publisher site.