Anti-cancer analogues ME-143 and ME-344 exert toxicity by directly inhibiting mitochondrial NADH: ubiquinone oxidoreductase (Complex I)

Autor Lim, Sze Chern, Carey, Kirstyn T, McKenzie, Matthew
Vydáno v Am J Cancer Res (2015)

Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

Autor Lim, Sze Chern, Tajika, Makiko, Shimura, Masaru, Carey, Kirstyn T., Stroud, David A., Murayama, Kei, Ohtake, Akira, McKenzie, Matthew
Vydáno v Sci Rep (2018)

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

Autor Riley, Lisa G., Cooper, Sandra, Hickey, Peter, Rudinger-Thirion, Joëlle, McKenzie, Matthew, Compton, Alison, Lim, Sze Chern, Thorburn, David, Ryan, Michael T., Giegé, Richard, Bahlo, Melanie, Christodoulou, John
Vydáno 2010

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Autor Calvo, Sarah E., Compton, Alison G., Hershman, Steven G., Lim, Sze Chern, Lieber, Daniel S., Tucker, Elena J., Laskowski, Adrienne, Garone, Caterina, Liu, Shangtao, Jaffe, David B., Christodoulou, John, Fletcher, Janice M., Bruno, Damien L, Goldblatt, Jack, DiMauro, Salvatore, Thorburn, David R., Mootha, Vamsi K.
Vydáno 2012

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Autor Lim, Sze Chern, Friemel, Martin, Marum, Justine E., Tucker, Elena J., Bruno, Damien L., Riley, Lisa G., Christodoulou, John, Kirk, Edwin P., Boneh, Avihu, DeGennaro, Christine M., Springer, Michael, Mootha, Vamsi K., Rouault, Tracey A., Leimkühler, Silke, Thorburn, David R., Compton, Alison G.
Vydáno 2013

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Autor Lim, Sze Chern, Smith, Katherine R., Stroud, David A., Compton, Alison G., Tucker, Elena J., Dasvarma, Ayan, Gandolfo, Luke C., Marum, Justine E., McKenzie, Matthew, Peters, Heidi L., Mowat, David, Procopis, Peter G., Wilcken, Bridget, Christodoulou, John, Brown, Garry K., Ryan, Michael T., Bahlo, Melanie, Thorburn, David R.
Vydáno 2014