Identification of nuclear gene defects causing complex I deficiency in oncocytomas

Project: Research

Status	Finished
Effective start/end date	1/12/12 → 1/12/13

Mitochondrial translation requires folate-dependent tRNA methylation.
Morscher, R. J., Ducker, G. S., Li, S.H.-J., Mayer, J. A., Gitai, Z., Sperl, W. (Co-author) & Rabinowitz, J. D., 2018, In: NATURE . 554, 7690, p. 128-132
Research output: Contribution to journal › Letter to the editor › peer-review

225 Citations (Web of Science)
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston, C. L., Compton, A. G., Formosa, L. E., Strecker, V., Oláhová, M., Haack, T. B., Smet, J., Stouffs, K., Diakumis, P., Ciara, E., Cassiman, D., Romain, N., Yarham, J. W., He, L., De Paepe, B., Vanlander, A. V., Seneca, S., Feichtinger, R. (Co-author), Płoski, R. & Rokicki, D. & 11 others, Pronicka, E., Haller, R. G., Van Hove, J. L. K., Bahlo, M., Mayr, J. A. (Co-author), Van Coster, R., Prokisch, H., Wittig, I., Ryan, M. T., Thorburn, D. R. & Taylor, R. W., 2016, In: AMERICAN JOURNAL OF HUMAN GENETICS . 99, 1, p. 217-227
Research output: Contribution to journal › Original Article › peer-review

53 Citations (Web of Science)
Deficiency of respiratory chain complex I in Hashimoto thyroiditis.
Zimmermann, F. (First author), Neureiter, D. (Co-author), Feichtinger, R. (Co-author), Trost, A. (Co-author), Sperl, W. (Co-author), Kofler, B. (Co-author) & Mayr, J. A. (Last author), 2016, In: MITOCHONDRION. 26, p. 1-6
Research output: Contribution to journal › Original Article › peer-review

9 Citations (Web of Science)

Project Details