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Items: 1 to 20 of 86

1.
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
Correction in:
Sci Rep. 2024; 14: 21122.
PMCID:
PMC10985069
AbstractArticlePDF–3.7M
2.
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
AbstractArticlePDF–1.2M
3.
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
AbstractArticlePDF–3.7M
4.
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
AbstractArticlePDF–23M
5.
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
AbstractArticlePDF–2.9M
6.
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
AbstractArticlePDF–2.7M
7.
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
AbstractArticlePDF–2.7M
8.
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
9.
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
AbstractArticlePDF–3.0M
10.
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
AbstractArticlePDF–3.3M
11.
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
AbstractArticlePDF–2.9M
12.
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
AbstractArticlePDF–1.0M
13.
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
AbstractArticlePDF–754K
14.
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
AbstractArticlePDF–63K
15.
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
AbstractArticlePDF–3.4M
16.
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
AbstractArticlePDF–1.7M
17.
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
AbstractArticlePDF–3.0M
18.
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
19.
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
AbstractArticlePDF–2.8M
20.
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
AbstractArticlePDF–4.7M

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