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Article

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.

Molecular genetics and metabolism - 1 Jun 2011

Danhauser Katharina, Iuso Arcangela, Haack Tobias B, Freisinger Peter, Brockmann Knut, Mayr Johannes A, Meitinger Thomas, Prokisch Holger

Abstract excerpt

Mitochondrial complex I deficiency is a frequent biochemical condition, causing about one third of respiratory chain disorders. Partly due to the large number of genes necessary for its assembly and function only a small proportion of complex I deficiencies are yet confirmed at the molecular genetic level. Now, next generation sequencing approaches are applied to close the gap between biochemical definition and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21458341
DOI: 10.1016/j.ymgme.2011.03.004

Genes

NDUFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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