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Items: 2

Select item 55402261.

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

René G. Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B. Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Sternberg, Christine Makowski, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B. Haack, Johannes A. Mayr

Oxid Med Cell Longev. 2017; 2017: 7202589. Published online 2017 Jul 19. doi: 10.1155/2017/7202589

PMCID:: PMC5540226

Abstract Article PDF–2.1M

Select item 38732432.

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

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

PLoS Genet. 2013 Dec; 9(12): e1004034. Published online 2013 Dec 26. doi: 10.1371/journal.pgen.1004034