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Article

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

Nature genetics - 1 Oct 2010

Calvo Sarah E, Tucker Elena J, Compton Alison G, Kirby Denise M, Crawford Gabriel, Burtt Noel P, Rivas Manuel, Guiducci Candace, Bruno Damien L, Goldberger Olga A, Redman Michelle C, Wiltshire Esko, Wilson Callum J, Altshuler David, Gabriel Stacey B, Daly Mark J, Thorburn David R, Mootha Vamsi K

Abstract excerpt

Discovering the molecular basis of mitochondrial respiratory chain disease is challenging given the large number of both mitochondrial and nuclear genes that are involved. We report a strategy of focused candidate gene prediction, high-throughput sequencing and experimental validation to uncover the molecular basis of mitochondrial complex I disorders. We created seven pools of DNA from a cohort of 103 cases and...

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Source

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Identifiers

PMID: 20818383
DOI: 10.1038/ng.659
PMCID: PMC2977978

Genes

FOXRED1
NUBPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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