A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

Por Nouws, Jessica, Wibrand, Flemming, van den Brand, Mariël, Venselaar, Hanka, Duno, Morten, Lund, Allan M., Trautner, Simon, Nijtmans, Leo, Østergard, Elsebet
Publicado em 2013

Functional consequences of mitochondrial tRNA(Trp) and tRNA(Arg) mutations causing combined OXPHOS defects

Por Smits, Paulien, Mattijssen, Sandy, Morava, Eva, van den Brand, Mariël, van den Brandt, Frans, Wijburg, Frits, Pruijn, Ger, Smeitink, Jan, Nijtmans, Leo, Rodenburg, Richard, van den Heuvel, Lambert
Publicado em 2010

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

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 em 2012

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

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

Por Jonckheere, An I, Hogeveen, Marije, Nijtmans, Leo, van den Brand, Mariel, Janssen, Antoon, Diepstra, Heleen, van den Brandt, Frans, van den Heuvel, Bert, Hol, Frans, Hofste, Tom, Kapusta, Livia, Dillmann, U, Shamdeen, M, Smeitink, J, Smeitink, J, Rodenburg, Richard
Publicado em 2009

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)

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Por Saada, Ann, Vogel, Rutger O., Hoefs, Saskia J., van den Brand, Mariël A., Wessels, Hans J., Willems, Peter H., Venselaar, Hanka, Shaag, Avraham, Barghuti, Flora, Reish, Orit, Shohat, Mordechai, Huynen, Martijn A., Smeitink, Jan A.M., van den Heuvel, Lambert P., Nijtmans, Leo G.
Publicado em 2009

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

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 em 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 em 2013