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Article

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.

Biochimica et biophysica acta - 1 Feb 2012

Pätsi Jukka, Maliniemi Pilvi, Pakanen Salla, Hinttala Reetta, Uusimaa Johanna, Majamaa Kari, Nyström Thomas, Kervinen Marko, Hassinen Ilmo E

Abstract excerpt

Defects in complex I due to mutations in mitochondrial DNA are associated with clinical features ranging from single organ manifestation like Leber hereditary optic neuropathy (LHON) to multiorgan disorders like mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. Specific mutations cause overlap syndromes combining several phenotypes, but the mechanisms of their...

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PMID: 22079202
DOI: 10.1016/j.bbabio.2011.10.014

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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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