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 em 2012

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

Por Baertling, Fabian, Sánchez-Caballero, Laura, van den Brand, Mariël A M, Wintjes, Liesbeth T, Brink, Maaike, van den Brandt, Frans A, Wilson, Callum, Rodenburg, Richard J T, Nijtmans, Leo G J
Publicado no Eur J Hum Genet (2017)

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

Por Huigsloot, Merei, Nijtmans, Leo G., Szklarczyk, Radek, Baars, Marieke J.H., van den Brand, Mariël A.M., HendriksFranssen, Marthe G.M., van den Heuvel, Lambertus P., Smeitink, Jan A.M., Huynen, Martijn A., Rodenburg, Richard J.T.
Publicado em 2011

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Por Sánchez-Caballero, Laura, Ruzzenente, Benedetta, Bianchi, Lucas, Assouline, Zahra, Barcia, Giulia, Metodiev, Metodi D., Rio, Marlène, Funalot, Benoît, van den Brand, Mariël A.M., Guerrero-Castillo, Sergio, Molenaar, Joery P., Koolen, David, Brandt, Ulrich, Rodenburg, Richard J., Nijtmans, Leo G., Rötig, Agnès
Publicado no Am J Hum Genet (2016)

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

Por Vogel, Rutger O., Janssen, Rolf J.R.J., van den Brand, Mariël A.M., Dieteren, Cindy E.J., Verkaart, Sjoerd, Koopman, Werner J.H., Willems, Peter H.G.M., Pluk, Wendy, van den Heuvel, Lambert P.W.J., Smeitink, Jan A.M., Nijtmans, Leo G.J.
Publicado em 2007

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 em 2013