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Items: 1 to 20 of 26

1.
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
AbstractArticlePDF–918K
2.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
3.
COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree
Min Li, Zhihui Yue, Hongrong Lin, Haiyan Wang, Huamu Chen, Liangzhong Sun
Ren Fail. 2021; 43(1): 97–101. Published online 2021 Jan 5. doi: 10.1080/0886022X.2020.1864402
PMCID:
PMC7801106
AbstractArticlePDF–1.3M
4.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
AbstractArticlePDF–4.8M
5.
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
AbstractArticlePDF–2.7M
6.
Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy
Xiao‐Dan Wen, Hong‐Fu Li, Hong‐Xia Wang, Wang Ni, Yi Dong, Zhi‐Ying Wu
CNS Neurosci Ther. 2015 Aug; 21(8): 626–630. Published online 2015 Jun 20. doi: 10.1111/cns.12412
PMCID:
PMC6495228
AbstractArticlePDF–730K
7.
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
AbstractArticlePDF–3.6M
8.
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
AbstractArticlePDF–3.3M
9.
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
AbstractArticlePDF–1.7M
10.
Association of the COQ2 V393A Variant with Parkinson's Disease: A Case-Control Study and Meta-Analysis
Xinglong Yang, Jing Xi, Quanzhen Zhao, Hua Jia, Ran An, Zhuolin Liu, Yanming Xu
PLoS One. 2015; 10(6): e0130970. Published online 2015 Jun 22. doi: 10.1371/journal.pone.0130970
PMCID:
PMC4476583
AbstractArticlePDF–286K
11.
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
AbstractArticlePDF–904K
12.
Analysis of COQ2 gene in multiple system atrophy
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
AbstractArticlePDF–2.3M
13.
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
AbstractArticlePDF–542K
14.
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
AbstractArticlePDF–387K
15.
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
AbstractArticlePDF–629K
16.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
17.
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
AbstractArticle
18.
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
AbstractArticlePDF–461K
19.
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
AbstractArticlePDF–927K
20.
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
AbstractArticlePDF–235K

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