OXPHOS mutations and neurodegeneration

Por Koopman, Werner J H, Distelmaier, Felix, Smeitink, Jan AM, Willems, Peter HGM
Publicado em 2013

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

Por Koopman, Werner JH, Beyrath, Julien, Fung, Cheuk‐Wing, Koene, Saskia, Rodenburg, Richard J, Willems, Peter HGM, Smeitink, Jan AM
Publicado no EMBO Mol Med (2016)

Three families with ‘de novo’ m.3243A > G mutation

Por de Laat, Paul, Janssen, Mirian C.H., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J.T., Smeitink, Jan A.M.
Publicado no BBA Clin (2016)

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Por Antonicka, Hana, Østergaard, Elsebet, Sasarman, Florin, Weraarpachai, Woranontee, Wibrand, Flemming, Pedersen, Anne Marie B., Rodenburg, Richard J., van der Knaap, Marjo S., Smeitink, Jan A.M., Chrzanowska-Lightowlers, Zofia M., Shoubridge, Eric A.
Publicado em 2010

Mitochondrial function and morphology are impaired in parkin mutant fibroblasts

Por Mortiboys, Heather, Thomas, Kelly Jean, Koopman, Werner J.H., Klaffke, Stefanie, Abou-Sleiman, Patrick, Olpin, Simon, Wood, Nicholas W, Willems, Peter H.G.M., Smeitink, Jan A.M., Cookson, Mark R, Bandmann, Oliver
Publicado em 2008

Trolox-Sensitive Reactive Oxygen Species Regulate Mitochondrial Morphology, Oxidative Phosphorylation and Cytosolic Calcium Handling in Healthy Cells

Por Distelmaier, Felix, Valsecchi, Federica, Forkink, Marleen, van Emst-de Vries, Sjenet, Swarts, Herman G., Rodenburg, Richard J.T., Verwiel, Eugène T.P., Smeitink, Jan A.M., Willems, Peter H.G.M., Koopman, Werner J.H.
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

NDUFA2 Complex I Mutation Leads to Leigh Disease

Por Hoefs, Saskia J.G., Dieteren, Cindy E.J., Distelmaier, Felix, Janssen, Rolf J.R.J., Epplen, Andrea, Swarts, Herman G.P., Forkink, Marleen, Rodenburg, Richard J., Nijtmans, Leo G., Willems, Peter H., Smeitink, Jan A.M., van den Heuvel, Lambert P.
Publicado em 2008

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