Article

RTN4IP1 is essential for the final stages of mitochondrial complex I assembly and coenzyme Q biosynthesis

2024-09-05

Abstract excerpt

<h4>Summary</h4> A biochemical deficiency of mitochondrial complex I (CI) underlies ∼30% of cases of primary mitochondrial disease, yet the inventory of molecular machinery required for CI assembly remains incomplete. We previously characterised patients with isolated CI deficiency caused by segregating variants in RTN4IP1, encoding a mitochondrial NAD(P)H oxidoreductase. Here, we demonstrate that RTN4IP1 defici...

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Literature Corpus work: e5d81f96-3b98-51a3-892d-7903c9d3df67
DOI: 10.1101/2024.09.04.610987

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