Article

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

2023-11-16

Abstract excerpt

<title>Abstract</title> <p>Isolated complex I (CI) deficiencies are a major cause of primary mitochondrial disease. Two-thirds of CI deficiencies arise from defects in CI assembly factors (CIAFs) that are not part of the CI holoenzyme. The biochemistry of CIAFs is poorly defined, making their role in CI assembly unclear and confounding interpretation of potential disease-causing genetic variants. To address these...

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Literature Corpus work: ab861b45-b6bb-5582-a7eb-3fe08f27b84f
DOI: 10.21203/rs.3.rs-3332602/v1

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