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Select item 17360581.

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

M Bugiani, V Tiranti, L Farina, G Uziel, M Zeviani

J Med Genet. 2005 May; 42(5): e28. doi: 10.1136/jmg.2004.029926

PMCID:: PMC1736058

Summary PDF–110K

Select item 40466482.

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Vivienne C.M. Neeve, Angela Pyle, Veronika Boczonadi, Aurora Gomez-Duran, Helen Griffin, Mauro Santibanez-Koref, Ulrike Gaiser, Peter Bauer, Andreas Tzschach, Patrick F. Chinnery, Rita Horvath

Mitochondrion. 2013 Nov; 13(6): 743–748. doi: 10.1016/j.mito.2013.03.002

PMCID:: PMC4046648

Abstract Article PDF–482K

Select item 39901603.

Loss of LRPPRC causes ATP synthase deficiency

Arnaud Mourier, Benedetta Ruzzenente, Tobias Brandt, Werner Kühlbrandt, Nils-Göran Larsson

Hum Mol Genet. 2014 May 15; 23(10): 2580–2592. Published online 2014 Jan 6. doi: 10.1093/hmg/ddt652

PMCID:: PMC3990160

Abstract Article PDF–1.3M

Select item 39286544.

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R. Smith, David A. Stroud, Alison G. Compton, Elena J. Tucker, Ayan Dasvarma, Luke C. Gandolfo, Justine E. Marum, Matthew McKenzie, Heidi L. Peters, David Mowat, Peter G. Procopis, Bridget Wilcken, John Christodoulou, Garry K. Brown, Michael T. Ryan, Melanie Bahlo, David R. Thorburn

Am J Hum Genet. 2014 Feb 6; 94(2): 209–222. doi: 10.1016/j.ajhg.2013.12.015

PMCID:: PMC3928654

Abstract Article PDF–1.9M

Select item 37408855.

Impaired complex IV activity in response to loss of LRPPRC function can be compensated by mitochondrial hyperfusion

Stéphane G. Rolland, Elisa Motori, Nadin Memar, Jürgen Hench, Stephan Frank, Konstanze F. Winklhofer, Barbara Conradt

Proc Natl Acad Sci U S A. 2013 Aug 6; 110(32): E2967–E2976. Published online 2013 Jul 22. doi: 10.1073/pnas.1303872110

PMCID:: PMC3740885

Abstract Article PDF–2.0M

Select item 37062306.

SURF1 deficiency: a multi-centre natural history study

Yehani Wedatilake, Ruth M Brown, Robert McFarland, Joy Yaplito-Lee, Andrew A M Morris, Mike Champion, Phillip E Jardine, Antonia Clarke, David R Thorburn, Robert W Taylor, John M Land, Katharine Forrest, Angus Dobbie, Louise Simmons, Erlend T Aasheim, David Ketteridge, Donncha Hanrahan, Anupam Chakrapani, Garry K Brown, Shamima Rahman

Orphanet J Rare Dis. 2013; 8: 96. Published online 2013 Jul 5. doi: 10.1186/1750-1172-8-96

PMCID:: PMC3706230

Abstract Article PDF–907K

Select item 37013217.

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, UK10K Consortium, Jan-Willem Taanman, Michael G. Hanna

Cell Rep. 2013 Jun 27; 3(6): 1795–1805. doi: 10.1016/j.celrep.2013.05.005

Correction in:: Cell Rep. 2013 Jul 25; 4(2): 402.

PMCID:: PMC3701321

Abstract Article

Select item 32615578.

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

Benedetta Ruzzenente, Metodi D Metodiev, Anna Wredenberg, Ana Bratic, Chan Bae Park, Yolanda Cámara, Dusanka Milenkovic, Volker Zickermann, Rolf Wibom, Kjell Hultenby, Hediye Erdjument-Bromage, Paul Tempst, Ulrich Brandt, James B Stewart, Claes M Gustafsson, Nils-Göran Larsson

EMBO J. 2012 Jan 18; 31(2): 443–456. Published online 2011 Nov 1. doi: 10.1038/emboj.2011.392

PMCID:: PMC3261557

Abstract Article PDF–1.1M

Select item 29375249.

Analysis of Leigh Syndrome Mutations in the Yeast SURF1 Homolog Reveals a New Member of the Cytochrome Oxidase Assembly Factor Family

Megan Bestwick, Mi-Young Jeong, Oleh Khalimonchuk, Hyung Kim, Dennis R. Winge

Mol Cell Biol. 2010 Sep; 30(18): 4480–4491. Published online 2010 Jul 12. doi: 10.1128/MCB.00228-10

PMCID:: PMC2937524

Abstract Article PDF–2.0M

Select item 285409010.

LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria

Florin Sasarman, Catherine Brunel-Guitton, Hana Antonicka, Timothy Wai, Eric A. Shoubridge, LSFC Consortium

Mol Biol Cell. 2010 Apr 15; 21(8): 1315–1323. doi: 10.1091/mbc.E10-01-0047

PMCID:: PMC2854090

Abstract Article PDF–1.6M

Select item 275797511.

Surf1, Associated with Leigh Syndrome in Humans, Is a Heme-binding Protein in Bacterial Oxidase Biogenesis

Freya A. Bundschuh, Achim Hannappel, Oliver Anderka, Bernd Ludwig

J Biol Chem. 2009 Sep 18; 284(38): 25735–25741. Published online 2009 Jul 22. doi: 10.1074/jbc.M109.040295

PMCID:: PMC2757975

Abstract Article PDF–1.7M

Select item 273148312.

Biochemical and genetic analysis of Leigh syndrome patients in Korea

Jong-Hee Chae, Jin Sook Lee, Ki Joong Kim, Yong Seung Hwang, Michio Hirano

Brain Dev. Author manuscript; available in PMC 2009 Aug 25.

Published in final edited form as: Brain Dev. 2008 Jun; 30(6): 387–390. Published online 2007 Dec 21. doi: 10.1016/j.braindev.2007.11.001

PMCID:: PMC2731483

Abstract Article PDF–270K

Select item 257197813.

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

M Pronicki, E Matyja, D Piekutowska-Abramczuk, T Szymańska-Dębińska, A Karkucińska-Więckowska, E Karczmarewicz, W Grajkowska, T Kmieć, E Popowska, J Sykut-Cegielska

J Clin Pathol. 2008 Apr; 61(4): 460–466. Published online 2007 Oct 1. doi: 10.1136/jcp.2007.051060