Article
Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model.
The Journal of biological chemistry - 5 Feb 2010
Meulemans Ann, Seneca Sara, Pribyl Thomas, Smet Joel, Alderweirldt Valerie, Waeytens Anouk, Lissens Willy, Van Coster Rudy, De Meirleir Linda, di Rago Jean-Paul, Gatti Domenico L, Ackerman Sharon H
Abstract excerpt
Studies in yeast have shown that a deficiency in Atp12p prevents assembly of the extrinsic domain (F(1)) of complex V and renders cells unable to make ATP through oxidative phosphorylation. De Meirleir et al. (De Meirleir, L., Seneca, S., Lissens, W., De Clercq, I., Eyskens, F., Gerlo, E., Smet, J., and Van Coster, R. (2004) J. Med. Genet. 41, 120-124) have reported that a homozygous missense mutation in the gene...
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