PMC Links for Nucleotide (Select 1519312031) - PMC

Select item 56186871.

Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment

Ying Wang, Christopher Smith, Jillian S. Parboosingh, Aneal Khan, Micheil Innes, Siegfried Hekimi

J Cell Mol Med. 2017 Oct; 21(10): 2329–2343. Published online 2017 Apr 13. doi: 10.1111/jcmm.13154

PMCID:: PMC5618687

Select item 49924562.

Mitochondrial protein interaction mapping identifies new regulators of respiratory chain function

Brendan J. Floyd, Emily M. Wilkerson, Mike T. Veling, Catie E. Minogue, Chuanwu Xia, Emily T. Beebe, Russell L. Wrobel, Holly Cho, Laura S. Kremer, Charlotte L. Alston, Katarzyna A. Gromek, Brendan K. Dolan, Arne Ulbrich, Jonathan A. Stefely, Sarah L. Bohl, Kelly M. Werner, Adam Jochem, Michael S. Westphall, Jarred W. Rensvold, Robert W. Taylor, Holger Prokisch, Jung-Ja P. Kim, Joshua J. Coon, David J. Pagliarini

Mol Cell. Author manuscript; available in PMC 2017 Aug 18.

Published in final edited form as: Mol Cell. 2016 Aug 18; 63(4): 621–632. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.033

PMCID:: PMC4992456

Abstract Article PDF–1.7M

Select item 45395813.

A nuclear role for the respiratory enzyme CLK-1/COQ7 in regulating mitochondrial stress responses and longevity

Richard M. Monaghan, Robert G. Barnes, Kate Fisher, Tereza Andreou, Nicholas Rooney, Gino B. Poulin, Alan J. Whitmarsh

Nat Cell Biol. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Nat Cell Biol. 2015 Jun; 17(6): 782–792. Published online 2015 May 11. doi: 10.1038/ncb3170

PMCID:: PMC4539581

Abstract Article PDF–3.0M

Select item 42261134.

Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis

Danielle C. Lohman, Farhad Forouhar, Emily T. Beebe, Matthew S. Stefely, Catherine E. Minogue, Arne Ulbrich, Jonathan A. Stefely, Shravan Sukumar, Marta Luna-Sánchez, Adam Jochem, Scott Lew, Jayaraman Seetharaman, Rong Xiao, Huang Wang, Michael S. Westphall, Russell L. Wrobel, John K. Everett, Julie C. Mitchell, Luis C. López, Joshua J. Coon, Liang Tong, David J. Pagliarini

Proc Natl Acad Sci U S A. 2014 Nov 4; 111(44): E4697–E4705. Published online 2014 Oct 22. doi: 10.1073/pnas.1413128111

PMCID:: PMC4226113

Abstract Article PDF–1.7M

Select item 29434765.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 57405576.

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem

J Med Genet. 2017 Dec; 54(12): 795–804. Published online 2017 Aug 5. doi: 10.1136/jmedgenet-2017-104811

PMCID:: PMC5740557

Abstract Article PDF–810K

Select item 46801337.

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Christoph Freyer, Henrik Stranneheim, Karin Naess, Arnaud Mourier, Andrea Felser, Camilla Maffezzini, Nicole Lesko, Helene Bruhn, Martin Engvall, Rolf Wibom, Michela Barbaro, Yvonne Hinze, Måns Magnusson, Robin Andeer, Rolf H Zetterström, Ulrika von Döbeln, Anna Wredenberg, Anna Wedell

J Med Genet. 2015 Nov; 52(11): 779–783. Published online 2015 Jun 17. doi: 10.1136/jmedgenet-2015-102986

PMCID:: PMC4680133

Abstract Article PDF–907K

Select item 32459038.

Coenzyme Q₁₀ Deficiencies in Neuromuscular Diseases

Rafael Artuch, Leonardo Salviati, Sandra Jackson, Michio Hirano, Plácido Navas

Adv Exp Med Biol. Author manuscript; available in PMC 2011 Dec 26.

Published in final edited form as: Adv Exp Med Biol. 2009; 652: 117–128. doi: 10.1007/978-90-481-2813-6_8

PMCID:: PMC3245903

Abstract Article PDF–219K

Select item 30802749.

Discriminating lymphomas and reactive lymphadenopathy in lymph node biopsies by gene expression profiling

To Ha Loi, Anna Campain, Adam Bryant, Tim J Molloy, Mark Lutherborrow, Jennifer Turner, Yee Hwa Jean Yang, David DF Ma

BMC Med Genomics. 2011; 4: 27. Published online 2011 Mar 31. doi: 10.1186/1755-8794-4-27

PMCID:: PMC3080274

Abstract Article PDF–333K

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