A systematic deep-mutational-scanning analysis of the mitochondrial complex I assembly factor NDUFAF6 reveals its molecular function and aids in the identification of pathogenic variants in mitochondrial disease.
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References
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This is a summary of: Sung, A. Y. et al. Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nat. Metab. https://doi.org/10.1038/s42255-024-01039-2 (2024).
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A systematic mutational framework for studying oxidative phosphorylation-related proteins. Nat Metab (2024). https://doi.org/10.1038/s42255-024-01042-7
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DOI: https://doi.org/10.1038/s42255-024-01042-7
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