C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

por Wanschers, Bas F. J., Szklarczyk, Radek, Pajak, Aleksandra, van den Brand, Mariël A. M., Gloerich, Jolein, Rodenburg, Richard J. T., Lightowlers, Robert N., Nijtmans, Leo G., Huynen, Martijn A.
Publicado 2012

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidas...

por Szklarczyk, Radek, Wanschers, Bas FJ, Cuypers, Thomas D, Esseling, John J, Riemersma, Moniek, van den Brand, Mariël AM, Gloerich, Jolein, Lasonder, Edwin, van den Heuvel, Lambert P, Nijtmans, Leo G, Huynen, Martijn A
Publicado 2012

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

por Wintjes, Liesbeth T. M., Kava, Maina, van den Brandt, Frans A., van den Brand, Mariël A. M., Lapina, Oksana, Bliksrud, Yngve T., Kulseth, Mari A., Amundsen, Silja S., Selberg, Terje R., Ybema‐Antoine, Marion, Tutakhel, Omar A. Z., Greed, Lawrence, Thorburn, David R., Tangeraas, Trine, Balasubramaniam, Shanti, Rodenburg, Richard J. T.
Publicado 2020

NOA1 is an essential GTPase required for mitochondrial protein synthesis

por Kolanczyk, Mateusz, Pech, Markus, Zemojtel, Tomasz, Yamamoto, Hiroshi, Mikula, Ivan, Calvaruso, Maria-Antonietta, van den Brand, Mariël, Richter, Ricarda, Fischer, Bjoern, Ritz, Anita, Kossler, Nadine, Thurisch, Boris, Spoerle, Ralf, Smeitink, Jan, Kornak, Uwe, Chan, Danny, Vingron, Martin, Martasek, Pavel, Lightowlers, Robert N., Nijtmans, Leo, Schuelke, Markus, Nierhaus, Knud H., Mundlos, Stefan
Publicado 2011

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

por Tucker, Elena J., Wanschers, Bas F. J., Szklarczyk, Radek, Mountford, Hayley S., Wijeyeratne, Xiaonan W., van den Brand, Mariël A. M., Leenders, Anne M., Rodenburg, Richard J., Reljić, Boris, Compton, Alison G., Frazier, Ann E., Bruno, Damien L., Christodoulou, John, Endo, Hitoshi, Ryan, Michael T., Nijtmans, Leo G., Huynen, Martijn A., Thorburn, David R.
Publicado 2013