| 11181577 |
Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa S: A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. Hum Mol Genet. 2001 Mar 1;10(5):529-35.
Fibroblast cultures from the patient exhibited severe reduction of the rotenone-sensitive NADH--> UQ oxidoreductase activity of complex I, which was insensitive to cAMP stimulation. |
3(0,0,0,3) |
Details |
| 18812510 |
Choi WS, Kruse SE, Palmiter RD, Xia Z: Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat. Proc Natl Acad Sci U S A. 2008 Sep 30;105(39):15136-41. Epub 2008 Sep 23.
To test this hypothesis genetically, we used a mouse strain lacking functional Ndufs4, a gene encoding a subunit required for complete assembly and function of complex I. |
1(0,0,0,1) |
Details |