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Select item 109850691.

Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation

Dan-dan Ruan, Xing-lin Ruan, Ruo‑li Wang, Xin-fu Lin, Yan-ping Zhang, Bin Lin, Shi-jie Li, Min Wu, Qian Chen, Jian-hui Zhang, Qiong Cheng, Yi-wu Zhang, Fan Lin, Jie-wei Luo, Zheng Zheng, Yun-fei Li

Sci Rep. 2024; 14: 7638. Published online 2024 Apr 1. doi: 10.1038/s41598-024-58452-6

PMCID:: PMC10985069

Abstract Article PDF–3.7M

Select item 109581792.

Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A

Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid

Mol Genet Genomic Med. 2024 Mar; 12(3): e2274. Published online 2024 Feb 13. doi: 10.1002/mgg3.2274

PMCID:: PMC10958179

Abstract Article PDF–1.2M

Select item 105658763.

Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates

Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert

Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644

PMCID:: PMC10565876

Abstract Article PDF–3.7M

Select item 102374224.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 101516155.

Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120

PMCID:: PMC10151615

Abstract Article PDF–2.9M

Select item 97696986.

A whole genome CRISPR screen identifies AHR loss as a mechanism of resistance to a PARP7 inhibitor

Huadong Chen, Morgan E. Diolaiti, Patrick C. O’Leary, Ajda Rojc, Nevan J. Krogan, Minkyu Kim, Alan Ashworth

Mol Cancer Ther. Author manuscript; available in PMC 2023 Jan 5.

Published in final edited form as: Mol Cancer Ther. 2022 Jul 5; 21(7): 1076–1089. doi: 10.1158/1535-7163.MCT-21-0841

PMCID:: PMC9769698

Abstract Article PDF–2.7M

Select item 95132717.

Proximity labeling of endogenous RICTOR identifies mTOR complex 2 regulation by ADP ribosylation factor ARF1

Amelia K. Luciano, Ekaterina D. Korobkina, Scott P. Lyons, John A. Haley, Shelagh M. Fluharty, Su Myung Jung, Arminja N. Kettenbach, David A. Guertin

J Biol Chem. 2022 Oct; 298(10): 102379. Published online 2022 Aug 13. doi: 10.1016/j.jbc.2022.102379

PMCID:: PMC9513271

Abstract Article PDF–2.7M

Select item 92792858.

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

Abstract Article PDF–2.5M

Select item 91519129.

A cancer-associated RNA polymerase III identity drives robust transcription and expression of snaR-A noncoding RNA

Kevin Van Bortle, David P. Marciano, Qing Liu, Tristan Chou, Andrew M. Lipchik, Sanjay Gollapudi, Benjamin S. Geller, Emma Monte, Rohinton T. Kamakaka, Michael P. Snyder

Nat Commun. 2022; 13: 3007. Published online 2022 May 30. doi: 10.1038/s41467-022-30323-6

PMCID:: PMC9151912

Abstract Article PDF–3.0M

Select item 911973610.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

Select item 905883611.

The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside

Xin Sun, Yeting Hong, Yuhan Shu, Caixia Wu, Guiqin Ye, Hanxiao Chen, Hongying Zhou, Ruilan Gao, Jianbin Zhang

J Ginseng Res. 2022 Mar; 46(2): 266–274. Published online 2021 Jul 8. doi: 10.1016/j.jgr.2021.06.009

PMCID:: PMC9058836

Abstract Article PDF–2.9M

Select item 905602612.

Two-Dimensional Fractionation Method for Proteome-Wide Cross-Linking Mass Spectrometry Analysis

Fenglong Jiao, Clinton Yu, Andrew Wheat, Xiaorong Wang, Scott D. Rychnovsky, Lan Huang

Anal Chem. Author manuscript; available in PMC 2022 Apr 30.

Published in final edited form as: Anal Chem. 2022 Mar 15; 94(10): 4236–4242. Published online 2022 Mar 2. doi: 10.1021/acs.analchem.1c04485

PMCID:: PMC9056026

Abstract Article PDF–1.0M

Select item 878969013.

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

Ilaria Di Donato, Antonio Gallo, Ivana Ricca, Nicola Fini, Gabriella Silvestri, Fiorella Gurrieri, Mario Cirillo, Alfonso Cerase, Gemma Natale, Federica Matrone, Vittorio Riso, Mariarosa Anna Beatrice Melone, Alessandra Tessa, Giovanna De Michele, Antonio Federico, Alessandro Filla, Maria Teresa Dotti, Filippo Maria Santorelli

Neurol Sci. 2022; 43(2): 1071–1077. Published online 2021 Jul 23. doi: 10.1007/s10072-021-05462-1

PMCID:: PMC8789690

Abstract Article PDF–754K

Select item 875855214.

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

Stefanie Perrier, Laurence Gauquelin, Jennifer A. Wambach, Geneviève Bernard

Am J Med Genet A. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Am J Med Genet A. 2022 Feb; 188(2): 708–712. Published online 2021 Nov 12. doi: 10.1002/ajmg.a.62553

PMCID:: PMC8758552

Abstract Article PDF–63K

Select item 853103415.

Structural insights into RNA polymerase III-mediated transcription termination through trapping poly-deoxythymidine

Haifeng Hou, Yan Li, Mo Wang, Aijun Liu, Zishuo Yu, Ke Chen, Dan Zhao, Yanhui Xu

Nat Commun. 2021; 12: 6135. Published online 2021 Oct 21. doi: 10.1038/s41467-021-26402-9

PMCID:: PMC8531034

Abstract Article PDF–3.4M

Select item 842308916.

Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160.

Robyn D. Moir, Christian Lavados, JaeHoon Lee, Ian M. Willis

Gene. Author manuscript; available in PMC 2022 Feb 5.

Published in final edited form as: Gene. 2021 Feb 5; 768: 145259. Published online 2020 Oct 22. doi: 10.1016/j.gene.2020.145259

PMCID:: PMC8423089

Abstract Article PDF–1.7M

Select item 836418117.

Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry

Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang

Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118

PMCID:: PMC8364181

Abstract Article PDF–3.0M

Select item 835296418.

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

Abstract Article PDF–4.5M

Select item 825475919.

HectD1 Controls Hematopoietic Stem Cell Regeneration by Coordinating Ribosome Assembly and Protein Synthesis

Kaosheng Lv, Chujie Gong, Charles Antony, Xu Han, Jian-Gang Ren, Ryan Donaghy, Ying Cheng, Simone Pellegrino, Alan J. Warren, Vikram R. Paralkar, Wei Tong

Cell Stem Cell. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Cell Stem Cell. 2021 Jul 1; 28(7): 1275–1290.e9. Published online 2021 Mar 11. doi: 10.1016/j.stem.2021.02.008

PMCID:: PMC8254759

Abstract Article PDF–2.8M

Select item 824939720.

Structure of human RNA polymerase III elongation complex

Liang Li, Zishuo Yu, Dan Zhao, Yulei Ren, Haifeng Hou, Yanhui Xu

Cell Res. 2021 Jul; 31(7): 791–800. Published online 2021 Mar 5. doi: 10.1038/s41422-021-00472-2

PMCID:: PMC8249397

Abstract Article PDF–4.7M

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