PMC Links for Gene (Select 27235) - PMC

Kotaro Ogaki, Shinsuke Fujioka, Michael G Heckman, Sruti Rayaprolu, Alexandra I Soto-Ortolaza, Catherine Labbé, Ronald L Walton, Oswaldo Lorenzo-Betancor, Xue Wang, Yan Asmann, Rosa Rademakers, Neill Graff-Radford, Ryan Uitti, William P Cheshire, Zbigniew K Wszolek, Dennis W Dickson, Owen A Ross

Mol Neurodegener. 2014; 9: 44. Published online 2014 Nov 5. doi: 10.1186/1750-1326-9-44

PMCID:: PMC4233093

Abstract Article PDF–2.3M

Select item 42151945.

Update on novel familial forms of Parkinson’s disease and multiple system atrophy

Shinsuke Fujioka, Kotaro Ogaki, Pawel Tacik, Ryan J Uitti, Owen A. Ross, Zbigniew K. Wszolek

Parkinsonism Relat Disord. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Parkinsonism Relat Disord. 2014 Jan; 20(0 1): S29–S34. doi: 10.1016/S1353-8020(13)70010-5

PMCID:: PMC4215194

Abstract Article PDF–542K

Select item 36394726.

Heterogeneity of coenzyme Q₁₀ deficiency: Patient Study and Literature Review

V Emmanuele, LC López, A Berardo, A Naini, S Tadesse, B Wen, E D’Agostino, M Salomon, S DiMauro, CM Quinzii, M Hirano

Arch Neurol. Author manuscript; available in PMC 2013 Apr 30.

Published in final edited form as: Arch Neurol. 2012 Aug; 69(8): 978–983. doi: 10.1001/archneurol.2012.206

Correction in:: volume 69 on page 886

PMCID:: PMC3639472

Abstract Article PDF–387K

Select item 36259757.

Human CoQ₁₀ deficiencies

CM Quinzii, LC Lopez, A Naini, S DiMauro, M Hirano

Biofactors. Author manuscript; available in PMC 2013 Apr 15.

Published in final edited form as: Biofactors. 2008; 32(0): 113–118. doi: 10.1002/biof.5520320113

PMCID:: PMC3625975

Abstract Article PDF–629K

Select item 27314828.

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ₁₀ deficiency

Catarina M. Quinzii, Luis C. López, Jakob Von-Moltke, Ali Naini, Sindu Krishna, Markus Schuelke, Leonardo Salviati, Plácido Navas, Salvatore DiMauro, Michio Hirano

FASEB J. Author manuscript; available in PMC 2009 Aug 25.

Published in final edited form as: FASEB J. 2008 Jun; 22(6): 1874–1885. Published online 2008 Jan 29. doi: 10.1096/fj.07-100149

PMCID:: PMC2731482

Abstract Article PDF–927K

Select item 18321949.

Genetic determinants of statin intolerance

Jisun Oh, Matthew R Ban, Brooke A Miskie, Rebecca L Pollex, Robert A Hegele

Lipids Health Dis. 2007; 6: 7. Published online 2007 Mar 21. doi: 10.1186/1476-511X-6-7

PMCID:: PMC1832194

Abstract Article PDF–235K

Select item 434510510.

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 138024111.

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 113380812.

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

Select item 180436113.

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 315222514.

Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome

Eduardo Machuca, Geneviève Benoit, Fabien Nevo, Marie-Josèphe Tête, Olivier Gribouval, Audrey Pawtowski, Per Brandström, Chantal Loirat, Patrick Niaudet, Marie-Claire Gubler, Corinne Antignac

J Am Soc Nephrol. 2010 Jul; 21(7): 1209–1217. doi: 10.1681/ASN.2009121309

PMCID:: PMC3152225

Abstract Article

Select item 689109715.

Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability

Divya Achuthankutty, Roshan Singh Thakur, Peter Haahr, Saskia Hoffmann, Alexandros P. Drainas, Anna H. Bizard, Joachim Weischenfeldt, Ian D. Hickson, Niels Mailand

J Cell Biol. 2019 Dec 2; 218(12): 3943–3953. Published online 2019 Oct 15. doi: 10.1083/jcb.201905064

PMCID:: PMC6891097

Abstract Article PDF–2.7M

Select item 910630316.

Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors

Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen

Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638

PMCID:: PMC9106303

Abstract Article PDF–918K

Select item 499245617.

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 642645518.

Mapping the genetic landscape of human cells

Max A. Horlbeck, Albert Xu, Min Wang, Neal K. Bennett, Chong Y. Park, Derek Bogdanoff, Britt Adamson, Eric D. Chow, Martin Kampmann, Tim R. Peterson, Ken Nakamura, Michael A. Fischbach, Jonathan S. Weissman, Luke A. Gilbert

Cell. Author manuscript; available in PMC 2019 Aug 9.

Published in final edited form as: Cell. 2018 Aug 9; 174(4): 953–967.e22. Published online 2018 Jul 19. doi: 10.1016/j.cell.2018.06.010

PMCID:: PMC6426455

Abstract Article PDF–3.6M

Select item 1626719.

Shotgun sequencing of the human transcriptome with ORF expressed sequence tags

Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson

Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491

PMCID:: PMC16267

Abstract Article PDF–111K

Select item 574645520.

A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals Molecular Determinants of Redox Homeostasis and NF-κB Signaling

Ramy H. Malty, Hiroyuki Aoki, Ashwani Kumar, Sadhna Phanse, Shahreen Amin, Qingzhou Zhang, Zoran Minic, Florian Goebels, Gabriel Musso, Zhuoran Wu, Hosam Abou-tok, Michael Meyer, Viktor Deineko, Sandy Kassir, Vishaldeep Sidhu, Matthew Jessulat, Nichollas E. Scott, Xuejian Xiong, James Vlasblom, Bhanu Prasad, Leonard J. Foster, Tiziana Alberio, Barbara Garavaglia, Haiyuan Yu, Gary D. Bader, Ken Nakamura, John Parkinson, Mohan Babu

Cell Syst. Author manuscript; available in PMC 2018 Dec 27.

Published in final edited form as: Cell Syst. 2017 Dec 27; 5(6): 564–577.e12. Published online 2017 Nov 8. doi: 10.1016/j.cels.2017.10.010

PMCID:: PMC5746455

Abstract Article PDF–3.3M

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