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Correcting a pathogenic mitochondrial DNA mutation by base editing in mice

Lookup NU author(s): Dr Jim StewartORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

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Author(s): Barrera-Paez JD, Bacman SR, Balla T, Van Booven D, Gannamedi DP, Stewart JB, Mok B, Lui DR, Lombardi DB, Griswald AJ, Nedialkova D, Moraes CT

Publication type: Article

Publication status: Published

Journal: Science Translational Medicine

Year: 2025

Volume: 17

Issue: 783

Print publication date: 29/01/2025

Online publication date: 29/01/2025

Acceptance date: 07/01/2025

Date deposited: 30/01/2025

ISSN (print): 1946-6234

ISSN (electronic): 1946-6242

Publisher: AAAS

URL: https://doi.org/10.1126/scitranslmed.adr0792

DOI: 10.1126/scitranslmed.adr0792

ePrints DOI: 10.57711/5gnf-yc90

Data Access Statement: All data associated with this study are present in the paper or the Supplementary Materials. The raw WGS data have been deposited in the BioProject database with BioProject ID PRJNA1123280. The raw mim-tRNAseq data have been deposited in the GEO database (GSE271921). The mim-tRNAseq data analysis pipeline is available at 10.5281/zenodo.6673322. All materials are available upon request. The m.5024C?T mouse is freely available to academic laboratories but available to license for commercial use from Max Plank Innovation. J.B.S. is a coinventor on this license.

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Funding

Funder referenceFunder name
Army Research Office (W911NF-21-1-0248, to C.T.M.)
EMBO Young Investigator Program (grant no. 4833, to D.D.N.)
European Research Council under the European Union’s Horizon 2020 Research and Innovation Programme (ERC Starting Grant No. 803825-TransTempoFold, to D.D.N.)
Florida Biomedical Foundation (21K05, to C.T.M.)
Max Planck Society (to D.D.N.)
Muscular Dystrophy Association (MDA 964119, to C.T.M.)
National Institutes of Health (NIH) award R01EY010804 (to C.T.M.)
MRC award MC_PC_21046 to establish an MRC National Mouse Genetics Network Mitochondria Cluster (MitoCluster) supports J.B.S
NIH grants R01CA253986 (to D.B.L.) and R33AG077856 (to D.B.L.)
NR-DFG grant NE2315/2-1 (to D.D.N.)
R01NS079965 (to C.T.M.)
R35GM118062 (to D.R.L.)
Research to Prevent Blindness Stein award (to C.T.M.)
Sylvester Comprehensive Cancer Center under award P30CA240139 (to D.B.L.)
US NIH RM1 HG009490 (to D.R.L.)

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