Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

doi:10.1016/j.ajhg.2026.03.003

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Article

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

American journal of human genetics - 7 May 2026

Tan Natalie B, Gautschi Matthias, Raum Michael, Hock Daniella H, Kopajtich Robert, Wang Jia, Qian Xiao, Sharma Tanavi, Green Timothy E, Nuoffer Jean-Marc, Bell Katrina M, Pospieszny Katarzyna, Stait Tegan, Pike Chloe, Cao Michelle, White Susan M, Thorburn David R, Brunet Theresa, Wagner Matias, Müller-Felber Wolfgang, Zeng Leopold, Klopstock Thomas, Schaller André, Liu Jing, Stroud David A, Prokisch Holger

Abstract excerpt

NDUFA5 encodes a structural subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase) located in the peripheral arm of the enzyme complex. Complex I is the largest enzyme of the mitochondrial respiratory chain and is essential for oxidative phosphorylation. There are many well-characterized conditions associated with nuclear-encoded mitochondrial complex I dysfunction, including Leigh syndrome,...

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Identifiers

PMID: 41916321
DOI: 10.1016/j.ajhg.2026.03.003
PMCID: PMC13277682

Genes

NDUFA5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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