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Items: 1 to 20 of 37

1.
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature
Max Borsche, Marija Dulovic-Mahlow, Hauke Baumann, Sinem Tunc, Theresa Lüth, Susen Schaake, Selin Özcakir, Ana Westenberger, Alexander Münchau, Evelyn Knappe, Joanne Trinh, Norbert Brüggemann, Katja Lohmann
Cerebellum. 2024; 23(2): 479–488. Published online 2023 Apr 22. doi: 10.1007/s12311-023-01557-x
PMCID:
PMC10951043
AbstractArticlePDF–3.3M
2.
Polγ coordinates DNA synthesis and proofreading to ensure mitochondrial genome integrity
Joon Park, Geoffrey K. Herrmann, Patrick G. Mitchell, Michael B. Sherman, Y. Whitney Yin
Nat Struct Mol Biol. Author manuscript; available in PMC 2024 Mar 8.
Published in final edited form as: Nat Struct Mol Biol. 2023 Jun; 30(6): 812–823. Published online 2023 May 18. doi: 10.1038/s41594-023-00980-2
PMCID:
PMC10920075
AbstractArticlePDF–2.6M
3.
Structure-specific roles for PolG2–DNA complexes in maintenance and replication of mitochondrial DNA
Jessica L Wojtaszek, Kirsten E Hoff, Matthew J Longley, Parminder Kaur, Sara N Andres, Hong Wang, R Scott Williams, William C Copeland
Nucleic Acids Res. 2023 Oct 13; 51(18): 9716–9732. Published online 2023 Aug 18. doi: 10.1093/nar/gkad679
PMCID:
PMC10570022
AbstractArticlePDF–2.6M
4.
HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation
Jingsheng Yuan, Tao Lv, Jian Yang, Zhenru Wu, Lvnan Yan, Jiayin Yang, Yujun Shi, Li Jiang
Cell Mol Gastroenterol Hepatol. 2023; 15(2): 307–325. Published online 2022 Oct 14. doi: 10.1016/j.jcmgh.2022.10.005
PMCID:
PMC9772558
AbstractArticlePDF–8.2M
5.
Protocol to detect in vitro and in cell ubiquitylation of mitochondrial DNA polymerase gamma by mitochondrial E3 ligase MITOL
Mansoor Hussain, Shabnam Saifi, Aftab Mohammed, Sagar Sengupta
STAR Protoc. 2022 Dec 16; 3(4): 101710. Published online 2022 Sep 21. doi: 10.1016/j.xpro.2022.101710
PMCID:
PMC9508469
AbstractArticlePDF–1.7M
6.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
PMCID:
PMC9279285
AbstractArticlePDF–2.5M
7.
Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer
Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger
Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y
PMCID:
PMC8352964
AbstractArticlePDF–4.5M
8.
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
9.
Consequences of Compromised Mitochondrial Genome Integrity
Margaret A. Gustafson, Eric D. Sullivan, William C. Copeland
DNA Repair (Amst) Author manuscript; available in PMC 2021 Sep 1.
Published in final edited form as: DNA Repair (Amst). 2020 Sep; 93: 102916. doi: 10.1016/j.dnarep.2020.102916
PMCID:
PMC7587307
AbstractArticlePDF–1022K
10.
Mitochondrial ClpP-mediated proteolysis induces selective cancer cell lethality
Jo Ishizawa, Sarah F. Zarabi, R. Eric Davis, Ondrej Halgas, Takenobu Nii, Yulia Jitkova, Ran Zhao, Jonathan St-Germain, Lauren E. Heese, Grace Egan, Vivian R. Ruvolo, Samir H. Barghout, Yuki Nishida, Rose Hurren, Wencai Ma, Marcela Gronda, Todd Link, Keith Wong, Mark Mabanglo, Kensuke Kojima, Gautam Borthakur, Neil MacLean, John Man Chun Ma, Andrew B. Leber, Mark D. Minden, Walid Houry, Hagop Kantarjian, Martin Stogniew, Brian Raught, Emil F. Pai, Aaron D. Schimmer, Michael Andreeff
Cancer Cell. Author manuscript; available in PMC 2020 May 13.
Published in final edited form as: Cancer Cell. 2019 May 13; 35(5): 721–737.e9. Published online 2019 May 2. doi: 10.1016/j.ccell.2019.03.014
PMCID:
PMC6620028
AbstractArticlePDF–2.9M
11.
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome
Kirsten E. Hoff, Karen L. DeBalsi, Maria J. Sanchez-Quintero, Matthew J. Longley, Michio Hirano, Ali B. Naini, William C. Copeland
PLoS One. 2018; 13(8): e0203198. Published online 2018 Aug 29. doi: 10.1371/journal.pone.0203198
PMCID:
PMC6114919
AbstractArticlePDF–4.9M
12.
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma
Triinu Siibak, Paula Clemente, Ana Bratic, Helene Bruhn, Timo E.S. Kauppila, Bertil Macao, Florian A. Rosenberger, Nicole Lesko, Rolf Wibom, Karin Naess, Inger Nennesmo, Anna Wedell, Bradley Peter, Christoph Freyer, Maria Falkenberg, Anna Wredenberg
Hum Mol Genet. 2017 Jul 1; 26(13): 2515–2525. Published online 2017 Apr 17. doi: 10.1093/hmg/ddx146
PMCID:
PMC5886115
AbstractArticlePDF–958K
13.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
14.
Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an Infant with Fulminant Hepatic Failure and Mitochondrial DNA Depletion
Hemant Varma, Phyllis L. Faust, Alejandro D. Iglesias, Stephen M. Lagana, Karen Wou, Michio Hirano, Salvatore DiMauro, Mahesh M. Mansukani, Kirsten E. Hoff, Peter L. Nagy, William C. Copeland, Ali B. Naini
Eur J Med Genet. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: Eur J Med Genet. 2016 Oct; 59(10): 540–545. Published online 2016 Aug 31. doi: 10.1016/j.ejmg.2016.08.012
PMCID:
PMC5045816
AbstractArticlePDF–2.1M
15.
Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies
Ana Bratic, Timo E. S. Kauppila, Bertil Macao, Sebastian Grönke, Triinu Siibak, James B. Stewart, Francesca Baggio, Jacqueline Dols, Linda Partridge, Maria Falkenberg, Anna Wredenberg, Nils-Göran Larsson
Nat Commun. 2015; 6: 8808. Published online 2015 Nov 10. doi: 10.1038/ncomms9808
PMCID:
PMC4773887
AbstractArticlePDF–1.8M
16.
Mitochondrial Single-stranded DNA-binding Proteins Stimulate the Activity of DNA Polymerase γ by Organization of the Template DNA
Grzegorz L. Ciesielski, Oya Bermek, Fernando A. Rosado-Ruiz, Stacy L. Hovde, Orrin J. Neitzke, Jack D. Griffith, Laurie S. Kaguni
J Biol Chem. 2015 Nov 27; 290(48): 28697–28707. Published online 2015 Oct 7. doi: 10.1074/jbc.M115.673707
PMCID:
PMC4661385
AbstractArticlePDF–1.2M
17.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
18.
POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity
Matthew J. Young, Margaret M. Humble, Karen L. DeBalsi, Kathie Y. Sun, William C. Copeland
Hum Mol Genet. 2015 Sep 15; 24(18): 5184–5197. Published online 2015 Jun 29. doi: 10.1093/hmg/ddv240
PMCID:
PMC4550827
AbstractArticlePDF–710K
19.
Structural basis for processivity and antiviral drug toxicity in human mitochondrial DNA replicase
Michal R Szymanski, Vladmir B Kuznetsov, Christie Shumate, Qingchao Meng, Young-Sam Lee, Gayatri Patel, Smita Patel, Y Whitney Yin
EMBO J. 2015 Jul 14; 34(14): 1959–1970. Published online 2015 Jun 8. doi: 10.15252/embj.201591520
PMCID:
PMC4547898
AbstractArticlePDF–2.2M
20.
Inhibition of the mitochondrial protease, ClpP, as a therapeutic strategy for human acute myeloid leuekmia
Alicia Cole, Zezhou Wang, Etienne Coyaud, Veronique Voisin, Marcela Gronda, Yulia Jitkova, Rachel Mattson, Rose Hurren, Sonja Babovic, Neil Maclean, Ian Restall, Xiaoming Wang, Danny V. Jeyaraju, Mahadeo A. Sukhai, Swayam Prabha, Shaheena Bashir, Ashwin Ramakrishnan, Elisa Leung, Yi Hua Qia, Nianxian Zhang, Kevin R. Combes, Troy Ketela, Fengshu Lin, Walid A. Houry, Ahmed Aman, Rima Al-awar, Wei Zheng, Erno Wienholds, Chang Jiang Xu, John Dick, Jean C.Y. Wang, Jason Moffat, Mark D. Minden, Connie J. Eaves, Gary D. Bader, Zhenyue Hao, Steven M. Kornblau, Brian Raught, Aaron D. Schimmer
Cancer Cell. Author manuscript; available in PMC 2016 Jun 8.
Published in final edited form as: Cancer Cell. 2015 Jun 8; 27(6): 864–876. doi: 10.1016/j.ccell.2015.05.004
PMCID:
PMC4461837
AbstractArticlePDF–2.3M

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