PMC Links for OMIM (Select 609825) - PMC

Select item 87895971.

Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report

Kentaro Kurata, Katsuhiro Hosono, Masakazu Takayama, Masahisa Katsuno, Hirotomo Saitsu, Tsutomu Ogata, Yoshihiro Hotta

Am J Ophthalmol Case Rep. 2022 Mar; 25: 101298. Published online 2022 Jan 20. doi: 10.1016/j.ajoc.2022.101298

PMCID:: PMC8789597

Select item 52958212.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 43451053.

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

José M. López-Martín, Leonardo Salviati, Eva Trevisson, Giovanni Montini, Salvatore DiMauro, Catarina Quinzii, Michio Hirano, Angeles Rodriguez-Hernandez, Mario D. Cordero, José A. Sánchez-Alcázar, Carlos Santos-Ocaña, Plácido Navas

Hum Mol Genet. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Hum Mol Genet. 2007 May 1; 16(9): 1091–1097. Published online 2007 Mar 20. doi: 10.1093/hmg/ddm058

PMCID:: PMC4345105

Abstract Article PDF–904K

Select item 29969024.

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ₁₀ deficiency

Catarina M. Quinzii, Luis C. López, Robert W. Gilkerson, Beatriz Dorado, Jorida Coku, Ali B. Naini, Clotilde Lagier-Tourenne, Markus Schuelke, Leonardo Salviati, Rosalba Carrozzo, Filippo Santorelli, Shamima Rahman, Meriem Tazir, Michel Koenig, Salvatore DiMauro, Michio Hirano

FASEB J. 2010 Oct; 24(10): 3733–3743. doi: 10.1096/fj.09-152728

PMCID:: PMC2996902

Abstract Article

Select item 18043615.

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

Julie Mollet, Irina Giurgea, Dimitri Schlemmer, Gustav Dallner, Dominique Chretien, Agnès Delahodde, Delphine Bacq, Pascale de Lonlay, Arnold Munnich, Agnès Rötig

J Clin Invest. 2007 Mar 1; 117(3): 765–772. Published online 2007 Mar 1. doi: 10.1172/JCI29089

PMCID:: PMC1804361

Abstract Article PDF–1022K

Select item 13802416.

A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q₁₀ Deficiency

Catarina Quinzii, Ali Naini, Leonardo Salviati, Eva Trevisson, Plácido Navas, Salvatore DiMauro, Michio Hirano

Am J Hum Genet. 2006 Feb; 78(2): 345–349. Published online 2005 Dec 22. doi: 10.1086/500092

PMCID:: PMC1380241

Abstract Article PDF–181K

Select item 11338087.

Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ

Margareta Forsgren, Anneli Attersand, Staffan Lake, Jacob GRüNLER, Ewa Swiezewska, Gustav Dallner, Isabel Climent

Biochem J. 2004 Sep 1; 382(Pt 2): 519–526. Prepublished online 2004 May 21. Published online 2004 Aug 24. doi: 10.1042/BJ20040261

PMCID:: PMC1133808

Abstract Article PDF–269K

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