Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy

A G to A transition at nucleotide 11778 in the ND4 subunit gene of complex I was the first point mutation in the mitochondrial genome linked to a human disease. It causes Leber Hereditary Optic Neuropathy, a disorder with oxidative phosphorylation deficiency. To overcome this defect, we made a synth...

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Veröffentlicht in:	Annals of neurology 2002-11, Vol.52 (5), p.534-542
Hauptverfasser:	Guy, John, Qi, Xiaoping, Pallotti, Francesco, Schon, Eric A., Manfredi, Giovanni, Carelli, Valerio, Martinuzzi, Andrea, Hauswirth, William W., Lewin, Alfred S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphate - biosynthesis Biological and medical sciences Cell Survival Cells, Cultured Dependovirus - genetics Diseases of visual field, optic nerve, optic chiasma and optic tracts DNA, Mitochondrial - genetics Electron Transport Complex I Gene Transfer Techniques Genetic Therapy Genetic Vectors Humans Hybrid Cells - physiology Medical sciences NADH, NADPH Oxidoreductases - genetics NADH, NADPH Oxidoreductases - metabolism Ophthalmology Optic Atrophy, Hereditary, Leber - genetics Optic Atrophy, Hereditary, Leber - metabolism Optic Atrophy, Hereditary, Leber - therapy Oxidative Phosphorylation Point Mutation Sequence Tagged Sites
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