Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA

The oxidative stress resulting from the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the mitochondrial ATPase 6 gene was investigated in cultured skin fibroblasts from two patients presenting an isolated complex V deficiency. Taken as an index for superoxide overproduction, a huge induc...

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Veröffentlicht in:	Human molecular genetics 2001-05, Vol.10 (11), p.1221-1228
Hauptverfasser:	Geromel, V, Kadhom, N, Cebalos-Picot, I, Ouari, O, Polidori, A, Munnich, A, Rötig, A, Rustin, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - deficiency Adenosine Triphosphatases - genetics Apoptosis - drug effects Ataxia - enzymology Ataxia - genetics Blotting, Northern Blotting, Western Cells, Cultured DNA, Mitochondrial - genetics Fibroblasts - drug effects Fibroblasts - enzymology Glutathione - analysis Glutathione Transferase - metabolism Humans Membrane Potentials Mutation Oxidative Stress - genetics Proto-Oncogene Proteins c-bcl-2 - metabolism Reactive Oxygen Species - physiology Retinitis Pigmentosa - enzymology Retinitis Pigmentosa - genetics RNA, Messenger - analysis Skin - drug effects Skin - enzymology Superoxide Dismutase - metabolism Superoxides - pharmacology
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