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Select item 114953971.

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families

Ichraf Kraoua, Maha Jamoussi, Cyrine Drissi, Lilia Kraoua, Séverine Drunat, Hanene Benrhouma, Thouraya Ben Younes, Sonia Nagi, Sonia Abdelhak, Odile Boespflug Tanguy, Ilhem Ben Youssef‐Turki, Mediha Trabelsi, Imen Dorboz

Mol Genet Genomic Med. 2024 Oct; 12(10): e70007. Published online 2024 Oct 22. doi: 10.1002/mgg3.70007

PMCID:: PMC11495397

Abstract Article PDF–923K

Select item 113486802.

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

Johanna L. Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley, Yue Wang, Jill A. Rosenfeld, Lindsey Mighion, Lora Bean, Cristina da Silva, Megan T. Cho, Rebecca Truty, John Garcia, Virginia Speare, Kirsten Blanco, Zoe Powis, Grace M. Hobson, Susan Kirwin, Bryan Krock, Hane Lee, Joshua L. Deignan, Maggie A. Westemeyer, Ryan L. Subaran, Isabelle Thiffault, Ellen A. Tsai, Terry Fang, Guy Helman, Adeline Vanderver

Am J Med Genet A. Author manuscript; available in PMC 2024 Aug 27.

Published in final edited form as: Am J Med Genet A. 2020 Aug; 182(8): 1906–1912. Published online 2020 Jun 23. doi: 10.1002/ajmg.a.61641

PMCID:: PMC11348680

Abstract Article PDF–577K

Select item 112969143.

DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples

Fenglong Jiao, Clinton Yu, Andrew Wheat, Lijun Chen, Tung-Shing Mamie Lih, Hui Zhang, Lan Huang

J Proteome Res. Author manuscript; available in PMC 2024 Aug 3.

Published in final edited form as: J Proteome Res. 2024 Aug 2; 23(8): 3269–3279. Published online 2024 Feb 9. doi: 10.1021/acs.jproteome.3c00832

PMCID:: PMC11296914

Abstract Article PDF–1.7M

Select item 112379304.

Identifications of novel host cell factors that interact with the receptor-binding domain of the SARS-CoV-2 spike protein

Xiao Tang, Yang Liu, Jinhui Wang, Teng Long, Bobo Wing Yee Mok, Yan Huang, Ziqing Peng, Qinyu Jia, Chengxi Liu, Pui-Kin So, Sirius Pui-Kam Tse, Cheuk Hei NG, Shiyi Liu, Fei Sun, Shaojun Tang, Zhong-Ping Yao, Honglin Chen, Yusong Guo

J Biol Chem. 2024 Jun; 300(6): 107390. Published online 2024 May 21. doi: 10.1016/j.jbc.2024.107390

PMCID:: PMC11237930

Abstract Article PDF–3.8M

Select item 112099355.

Antagonistic roles of canonical and alternative-RPA in disease-associated tandem CAG repeat instability

Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, Amit L. Deshmukh, Rachel J. Harding, Stephanie Tran, Mustafa Mehkary, Vanessa Li, David E. Leib, Ran Chen, Hikari Tanaka, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, Mortezaali Razzaghi, Tanya Prasolava, Stella Lanni, Nozomu Sato, Marie-Christine Caron, Gagan B. Panigrahi, Peixiang Wang, Rachel Lau, Arturo López Castel, Jean-Yves Masson, Lynette Tippett, Clinton Turner, Maria Spies, Albert R. La Spada, Eric I. Campos, Maurice A. Curtis, François-Michel Boisvert, Richard L.M. Faull, Beverly L. Davidson, Masayuki Nakamori, Hitoshi Okazawa, Marc S. Wold, Christopher E. Pearson

Cell. Author manuscript; available in PMC 2024 Oct 26.

Published in final edited form as: Cell. 2023 Oct 26; 186(22): 4898–4919.e25. Published online 2023 Oct 11. doi: 10.1016/j.cell.2023.09.008

PMCID:: PMC11209935

Abstract Article PDF–3.0M

Select item 109850696.

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

Abstract Article PDF–3.7M

Select item 109581797.

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 105658768.

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 103986609.

C9orf72 protein quality control by UBR5‐mediated heterotypic ubiquitin chains

Julia Jülg, Dieter Edbauer, Christian Behrends

EMBO Rep. 2023 Aug; 24(8): e55895. Published online 2023 Jun 15. doi: 10.15252/embr.202255895

PMCID:: PMC10398660

Abstract Article PDF–2.4M

Select item 1023742210.

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 1015161511.

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 976969812.

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 951327113.

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 927928514.

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 915191215.

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 911973616.

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 905883617.

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 905602618.

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 878969019.

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 875855220.

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

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