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Article

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.

Nature metabolism - 1 Jun 2024

Sung Andrew Y, Guerra Rachel M, Steenberge Laura H, Alston Charlotte L, Murayama Kei, Okazaki Yasushi, Shimura Masaru, Prokisch Holger, Ghezzi Daniele, Torraco Alessandra, Carrozzo Rosalba, Rötig Agnès, Taylor Robert W, Keck James L, Pagliarini David J

Abstract excerpt

Isolated complex I (CI) deficiencies are a major cause of primary mitochondrial disease. A substantial proportion of CI deficiencies are believed to arise from defects in CI assembly factors (CIAFs) that are not part of the CI holoenzyme. The biochemistry of these CIAFs is poorly defined, making their role in CI assembly unclear, and confounding interpretation of potential disease-causing genetic variants. To...

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PMID: 38720117
DOI: 10.1038/s42255-024-01039-2
PMCID: PMC11395703

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