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Article

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

Brain : a journal of neurology - 1 Oct 2004

Beretta Simone, Mattavelli Laura, Sala Gessica, Tremolizzo Lucio, Schapira Anthony H V, Martinuzzi Andrea, Carelli Valerio, Ferrarese Carlo

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy which is caused by point mutations in the mitochondrial genome (mtDNA). Three pathogenic mutations (positions 11778/ND4, 3460/ND1 and 14484/ND6) account for the majority of LHON cases and they affect genes that encode for different subunits of mitochondrial complex I. Excitotoxic...

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PMID: 15342361
DOI: 10.1093/brain/awh258

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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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