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Items: 1 to 20 of 130

1.
The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, Steven Salomon, Catalina Maftei, Julie Gauthier, Benjamin Ellazam, Neil Webb, Hana Antonicka, Alexandre Janer, Catherine Brunel-Guitton, Orly Elpeleg, Grant Mitchell, Eric A. Shoubridge
Hum Mol Genet. 2015 May 15; 24(10): 2841–2847. Published online 2015 Feb 4. doi: 10.1093/hmg/ddv044
PMCID:
PMC4406295
AbstractArticlePDF–442K
2.
Association between UCP2 A55V polymorphism and risk of cardiovascular events in patients with multi-vessel coronary arterial disease
Luciana Gioli-Pereira, Paulo CJL Santos, Luisa S Sugaya, Noely E Ferreira, José Eduardo Krieger, Alexandre C Pereira, Whady A Hueb
BMC Med Genet. 2013; 14: 40. Published online 2013 Mar 27. doi: 10.1186/1471-2350-14-40
PMCID:
PMC3621277
AbstractArticlePDF–272K
3.
Combined MRI and 31P-MRS Investigations of the ACTA1(H40Y) Mouse Model of Nemaline Myopathy Show Impaired Muscle Function and Altered Energy Metabolism
Charlotte Gineste, Yann Le Fur, Christophe Vilmen, Arnaud Le Troter, Emilie Pecchi, Patrick J. Cozzone, Edna C. Hardeman, David Bendahan, Julien Gondin
PLoS One. 2013; 8(4): e61517. Published online 2013 Apr 16. doi: 10.1371/journal.pone.0061517
PMCID:
PMC3629063
AbstractArticlePDF–500K
4.
Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Xiaowu Gai, Daniele Ghezzi, Mark A. Johnson, Caroline A. Biagosch, Hanan E. Shamseldin, Tobias B. Haack, Aurelio Reyes, Mai Tsukikawa, Claire A. Sheldon, Satish Srinivasan, Matteo Gorza, Laura S. Kremer, Thomas Wieland, Tim M. Strom, Erzsebet Polyak, Emily Place, Mark Consugar, Julian Ostrovsky, Sara Vidoni, Alan J. Robinson, Lee-Jun Wong, Neal Sondheimer, Mustafa A. Salih, Emtethal Al-Jishi, Christopher P. Raab, Charles Bean, Francesca Furlan, Rossella Parini, Costanza Lamperti, Johannes A. Mayr, Vassiliki Konstantopoulou, Martina Huemer, Eric A. Pierce, Thomas Meitinger, Peter Freisinger, Wolfgang Sperl, Holger Prokisch, Fowzan S. Alkuraya, Marni J. Falk, Massimo Zeviani
Am J Hum Genet. 2013 Sep 5; 93(3): 482–495. doi: 10.1016/j.ajhg.2013.07.016
PMCID:
PMC3769923
AbstractArticlePDF–1.4M
5.
Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss
Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, Diego Vozzi, Danilo Licastro, Angela d'Eustacchio, Dragana Vuckovic, Moza Khalifa Alkowari, Karen P. Steel, Ramin Badii, Paolo Gasparini
PLoS One. 2013; 8(12): e80323. Published online 2013 Dec 2. doi: 10.1371/journal.pone.0080323
PMCID:
PMC3846559
AbstractArticlePDF–1.5M
6.
Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
Sze Chern Lim, Martin Friemel, Justine E. Marum, Elena J. Tucker, Damien L. Bruno, Lisa G. Riley, John Christodoulou, Edwin P. Kirk, Avihu Boneh, Christine M. DeGennaro, Michael Springer, Vamsi K. Mootha, Tracey A. Rouault, Silke Leimkühler, David R. Thorburn, Alison G. Compton
Hum Mol Genet. 2013 Nov 15; 22(22): 4460–4473. Published online 2013 Jun 28. doi: 10.1093/hmg/ddt295
PMCID:
PMC3888131
AbstractArticlePDF–885K
7.
A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity
Juan R. González, Alejandro Cáceres, Tonu Esko, Ivon Cuscó, Marta Puig, Mikel Esnaola, Judith Reina, Valerie Siroux, Emmanuelle Bouzigon, Rachel Nadif, Eva Reinmaa, Lili Milani, Mariona Bustamante, Deborah Jarvis, Josep M. Antó, Jordi Sunyer, Florence Demenais, Manolis Kogevinas, Andres Metspalu, Mario Cáceres, Luis A. Pérez-Jurado
Am J Hum Genet. 2014 Mar 6; 94(3): 361–372. doi: 10.1016/j.ajhg.2014.01.015
PMCID:
PMC3951940
AbstractArticlePDF–1.7M
8.
Thiamine transporter-2 deficiency: outcome and treatment monitoring
Juan Darío Ortigoza-Escobar, Mercedes Serrano, Marta Molero, Alfonso Oyarzabal, Mónica Rebollo, Jordi Muchart, Rafael Artuch, Pilar Rodríguez-Pombo, Belén Pérez-Dueñas
Orphanet J Rare Dis. 2014; 9: 92. Published online 2014 Jun 23. doi: 10.1186/1750-1172-9-92
PMCID:
PMC4099387
AbstractArticlePDF–1.8M
9.
Hepatic transcriptomic profiling reveals early toxicological mechanisms of uranium in Atlantic salmon (Salmo salar)
You Song, Brit Salbu, Hans-Christian Teien, Lene Sørlie Heier, Bjørn Olav Rosseland, Tore Høgåsen, Knut Erik Tollefsen
BMC Genomics. 2014; 15(1): 694. Published online 2014 Aug 20. doi: 10.1186/1471-2164-15-694
PMCID:
PMC4148957
AbstractArticlePDF–2.4M
10.
The Alternative Oxidase AOX Does Not Rescue the Phenotype of tko25t Mutant Flies
Kia K. Kemppainen, Esko Kemppainen, Howard T. Jacobs
G3 (Bethesda) 2014 Oct; 4(10): 2013–2021. Published online 2014 Aug 21. doi: 10.1534/g3.114.013946
PMCID:
PMC4199707
AbstractArticlePDF–1.3M
11.
Molecular Integrative Clustering of Asian Gastric Cell Lines Revealed Two Distinct Chemosensitivity Clusters
Meng Ling Choong, Shan Ho Tan, Tuan Zea Tan, Sravanthy Manesh, Anna Ngo, Jacklyn W. Y. Yong, Henry He Yang, May Ann Lee
PLoS One. 2014; 9(10): e111146. Published online 2014 Oct 24. doi: 10.1371/journal.pone.0111146
PMCID:
PMC4208810
AbstractArticlePDF–7.2M
12.
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach, Metodi D. Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W. Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A. Mayr, Sarah F. Pearce, Christopher A. Powell, Ann Saada, Akira Ohtake, Federica Invernizzi, Eleonora Lamantea, Ewen W. Sommerville, Angela Pyle, Patrick F. Chinnery, Ellen Crushell, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, Marlène Rio, François Feillet, Bénédict Mousson de Camaret, Dominique Chretien, Arnold Munnich, Björn Menten, Tom Sante, Joél Smet, Luc Régal, Abraham Lorber, Asaad Khoury, Massimo Zeviani, Tim M. Strom, Thomas Meitinger, Enrico S. Bertini, Rudy Van Coster, Thomas Klopstock, Agnès Rötig, Tobias B. Haack, Michal Minczuk, Holger Prokisch
Am J Hum Genet. 2014 Dec 4; 95(6): 708–720. doi: 10.1016/j.ajhg.2014.10.017
PMCID:
PMC4259976
AbstractArticlePDF–1.0M
13.
Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome
Florin Sasarman, Tamiko Nishimura, Hana Antonicka, Woranontee Weraarpachai, Eric A. Shoubridge, Bruce Allen, Yan Burelle, Guy Charron, Lise Coderre, Christine DesRosiers, Catherine Laprise, Charles Morin, John Rioux, Eric A. Shoubridge
Hum Mol Genet. 2015 Jan 15; 24(2): 480–491. Published online 2014 Sep 11. doi: 10.1093/hmg/ddu468
PMCID:
PMC4275074
AbstractArticlePDF–834K
14.
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning
Lionel Blanchet, Jan A. M. Smeitink, Sjenet E. van Emst - de Vries, Caroline Vogels, Mina Pellegrini, An I. Jonckheere, Richard J. T. Rodenburg, Lutgarde M. C. Buydens, Julien Beyrath, Peter H. G. M. Willems, Werner J. H. Koopman
Sci Rep. 2015; 5: 8035. Published online 2015 Jan 26. doi: 10.1038/srep08035
PMCID:
PMC4306129
AbstractArticlePDF–1.0M
15.
CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria
Carol Saunders, Laurie Smith, Flemming Wibrand, Kirstine Ravn, Peter Bross, Isabelle Thiffault, Mette Christensen, Andrea Atherton, Emily Farrow, Neil Miller, Stephen F. Kingsmore, Elsebet Ostergaard
Am J Hum Genet. 2015 Feb 5; 96(2): 258–265. doi: 10.1016/j.ajhg.2014.12.020
PMCID:
PMC4320254
AbstractArticlePDF–732K
16.
Mitochondrial Vulnerability and Increased Susceptibility to Nutrient-Induced Cytotoxicity in Fibroblasts from Leigh Syndrome French Canadian Patients
Yan Burelle, Chantal Bemeur, Marie-Eve Rivard, Julie Thompson Legault, Gabrielle Boucher, LSFC Consortium, Charles Morin, Lise Coderre, Christine Des Rosiers
PLoS One. 2015; 10(4): e0120767. Published online 2015 Apr 2. doi: 10.1371/journal.pone.0120767
PMCID:
PMC4383560
AbstractArticlePDF–1.3M
17.
Mitochondrial Outer Membrane Proteome of Trypanosoma brucei Reveals Novel Factors Required to Maintain Mitochondrial Morphology
Moritz Niemann, Sebastian Wiese, Jan Mani, Astrid Chanfon, Christopher Jackson, Chris Meisinger, Bettina Warscheid, André Schneider
Mol Cell Proteomics. 2013 Feb; 12(2): 515–528. Published online 2012 Dec 6. doi: 10.1074/mcp.M112.023093
PMCID:
PMC3567870
AbstractArticlePDF–494K
18.
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase
Reetta Hinttala, Florin Sasarman, Tamiko Nishimura, Hana Antonicka, Catherine Brunel-Guitton, Jeremy Schwartzentruber, Somayyeh Fahiminiya, Jacek Majewski, Denis Faubert, Elsebet Ostergaard, Jan A. Smeitink, Eric A. Shoubridge
Hum Mol Genet. 2015 Jul 15; 24(14): 4103–4113. Published online 2015 Apr 24. doi: 10.1093/hmg/ddv149
PMCID:
PMC4476453
AbstractArticlePDF–627K
19.
Spectrum of combined respiratory chain defects
Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz A. Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl
J Inherit Metab Dis. 2015; 38(4): 629–640. Published online 2015 Mar 17. doi: 10.1007/s10545-015-9831-y
PMCID:
PMC4493854
AbstractArticlePDF–1006K
20.
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement
Alexandre Janer, Clara DM van Karnebeek, Florin Sasarman, Hana Antonicka, Malak Al Ghamdi, Casper Shyr, Mary Dunbar, Sylvia Stockler-Ispiroglu, Colin J Ross, Hilary Vallance, Janis Dionne, Wyeth W Wasserman, Eric A Shoubridge
Eur J Hum Genet. 2015 Oct; 23(10): 1301–1307. Published online 2015 Jan 21. doi: 10.1038/ejhg.2014.293
PMCID:
PMC4592087
AbstractArticlePDF–1.7M

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