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Select item 111451421.

RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia

Andona Milovanović, Nataša Dragaševic‐Mišković, Mirja Thomsen, Max Borsche, Frauke Hinrichs, Ana Westenberger, Christine Klein, Norbert Brüggemann, Marija Branković, Ana Marjanović, Marina Svetel, Vladimir S. Kostić, Katja Lohmann

Mov Disord Clin Pract. 2024 Jun; 11(6): 626–633. Published online 2024 Mar 15. doi: 10.1002/mdc3.14020

PMCID:: PMC11145142

Abstract Article PDF–891K

Select item 111094832.

K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors

Anita Waltho, Oliver Popp, Christopher Lenz, Lukas Pluska, Mahil Lambert, Volker Dötsch, Philipp Mertins, Thomas Sommer

Life Sci Alliance. 2024 Aug; 7(8): e202402740. Published online 2024 May 21. doi: 10.26508/lsa.202402740

PMCID:: PMC11109483

Abstract Article PDF–2.9M

Select item 110556893.

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile

David Pellerin, Felix Heindl, Andreas Traschütz, Dan Rujescu, Annette M. Hartmann, Bernard Brais, Henry Houlden, Claudia Dufke, Olaf Riess, Tobias Haack, Michael Strupp, Matthis Synofzik

J Neurol. 2024; 271(5): 2886–2892. Published online 2024 Feb 21. doi: 10.1007/s00415-024-12229-z

PMCID:: PMC11055689

Abstract Article PDF–696K

Select item 109998184.

Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with the neurological disorder CANVAS

Kenta Kudo, Karin Hori, Sefan Asamitsu, Kohei Maeda, Yukari Aida, Mei Hokimoto, Kazuya Matsuo, Yasushi Yabuki, Norifumi Shioda

J Biol Chem. 2024 Apr; 300(4): 107138. Published online 2024 Mar 5. doi: 10.1016/j.jbc.2024.107138

PMCID:: PMC10999818

Abstract Article PDF–2.0M

Select item 108507155.

Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?

Marios Hadjivassiliou, Riccardo Currò, Nick Beauchamp, Natalia Dominik, Richard A Grunewald, Priya Shanmugarajah, Panayiotis Zis, Nigel Hoggard, Andrea Cortese

J Neurol Neurosurg Psychiatry. 2024 Feb; 95(2): 171–174. Published online 2023 Jul 6. doi: 10.1136/jnnp-2023-331381

PMCID:: PMC10850715

Abstract Article PDF–224K

Select item 106899116.

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

Natalia Dominik, Stefania Magri, Riccardo Currò, Elena Abati, Stefano Facchini, Marinella Corbetta, Hannah Macpherson, Daniela Di Bella, Elisa Sarto, Igor Stevanovski, Sanjog R Chintalaphani, Fulya Akcimen, Arianna Manini, Elisa Vegezzi, Ilaria Quartesan, Kylie-Ann Montgomery, Valentina Pirota, Emmanuele Crespan, Cecilia Perini, Glenda Paola Grupelli, Pedro J Tomaselli, Wilson Marques, Genomics England Research Consortium , Joseph Shaw, James Polke, Ettore Salsano, Silvia Fenu, Davide Pareyson, Chiara Pisciotta, George K Tofaris, Andrea H Nemeth, John Ealing, Aleksandar Radunovic, Seamus Kearney, Kishore R Kumar, Steve Vucic, Marina Kennerson, Mary M Reilly, Henry Houlden, Ira Deveson, Arianna Tucci, Franco Taroni, Andrea Cortese

Brain. 2023 Dec; 146(12): 5060–5069. Published online 2023 Jul 14. doi: 10.1093/brain/awad240

Correction in:: Brain. 2024 Feb; 147(2): e23.

PMCID:: PMC10689911

Abstract Article PDF–582K

Select item 105848977.

Makito Hirano, Motoi Kuwahara, Yuko Yamagishi, Makoto Samukawa, Kanako Fujii, Shoko Yamashita, Masahiro Ando, Nobuyuki Oka, Mamoru Nagano, Taro Matsui, Toshihide Takeuchi, Kazumasa Saigoh, Susumu Kusunoki, Hiroshi Takashima, Yoshitaka Nagai

Sci Rep. 2023; 13: 17801. Published online 2023 Oct 18. doi: 10.1038/s41598-023-45011-8

PMCID:: PMC10584897

Abstract Article PDF–2.0M

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 102374229.

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 1016456410.

The ubiquitin-specific protease USP36 SUMOylates EXOSC10 and promotes the nucleolar RNA exosome function in rRNA processing

Yingxiao Chen, Yanping Li, Roselyn S Dai, Jonathan C Savage, Ujwal Shinde, John Klimek, Larry L David, Emma A Young, Markus Hafner, Rosalie C Sears, Xiao-Xin Sun, Mu-Shui Dai

Nucleic Acids Res. 2023 May 8; 51(8): 3934–3949. Published online 2023 Mar 13. doi: 10.1093/nar/gkad140

PMCID:: PMC10164564

Abstract Article PDF–3.8M

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 1013893112.

Analysis of Ku70 S155 Phospho-Specific BioID2 Interactome Identifies Ku Association with TRIP12 in Response to DNA Damage

Sanna Abbasi, Laila Bayat, Caroline Schild-Poulter

Int J Mol Sci. 2023 Apr; 24(8): 7041. Published online 2023 Apr 11. doi: 10.3390/ijms24087041

PMCID:: PMC10138931

Abstract Article PDF–4.0M

Select item 997294513.

Transferrin Receptor Protein 1 Cooperates with mGluR2 To Mediate the Internalization of Rabies Virus and SARS-CoV-2

Xinxin Wang, Zhiyuan Wen, Huizhen Cao, Jie Luo, Lei Shuai, Chong Wang, Jinying Ge, Xijun Wang, Zhigao Bu, Jinliang Wang

J Virol. 2023 Feb; 97(2): e01611-22. Published online 2023 Feb 13. doi: 10.1128/jvi.01611-22

PMCID:: PMC9972945

Abstract Article PDF–3.0M

Select item 995044714.

Targeting USP10 induces degradation of oncogenic ANLN in esophageal squamous cell carcinoma

Yu-Fei Cao, Lei Xie, Bei-Bei Tong, Man-Yu Chu, Wen-Qi Shi, Xiang Li, Jian-Zhong He, Shao-Hong Wang, Zhi-Yong Wu, Dan-Xia Deng, Ya-Qi Zheng, Zhi-Mao Li, Xiu-E Xu, Lian-Di Liao, Yin-Wei Cheng, Li-Yan Li, Li-Yan Xu, En-Min Li

Cell Death Differ. 2023 Feb; 30(2): 527–543. Published online 2022 Dec 16. doi: 10.1038/s41418-022-01104-x

PMCID:: PMC9950447

Abstract Article PDF–8.4M

Select item 993108015.

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Riccardo Ronco, Cecilia Perini, Riccardo Currò, Natalia Dominik, Stefano Facchini, Alice Gennari, Roberto Simone, Skye Stuart, Sara Nagy, Elisa Vegezzi, Ilaria Quartesan, Amar El-Saddig, Timothy Lavin, Arianna Tucci, Agnieszka Szymura, Luiz Eduardo Novis De Farias, Alexander Gary, Megan Delfeld, Priscilla Kandikatla, Nifang Niu, Sanjukta Tawde, Joseph Shaw, James Polke, Mary M. Reilly, Nick W. Wood, Emmanuele Crespan, Christopher Gomez, Jin Yun Helen Chen, Jeremy Dan Schmahmann, David Gosal, Henry Houlden, Soma Das, Andrea Cortese

Neurology. 2023 Jan 31; 100(5): e543–e554. doi: 10.1212/WNL.0000000000201486

PMCID:: PMC9931080

Abstract Article PDF–683K

Select item 977255816.

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

Abstract Article PDF–8.2M

Select item 976969817.

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 970808618.

The Nse5/6-like SIMC1-SLF2 complex localizes SMC5/6 to viral replication centers

Martina Oravcová, Minghua Nie, Nicola Zilio, Shintaro Maeda, Yasaman Jami-Alahmadi, Eros Lazzerini-Denchi, James A Wohlschlegel, Helle D Ulrich, Takanori Otomo, Michael N Boddy

eLife. 2022; 11: e79676. Published online 2022 Nov 14. doi: 10.7554/eLife.79676

PMCID:: PMC9708086

Abstract Article PDF–8.5M

Select item 962912119.

Therapeutic targeting of the USP2-E2F4 axis inhibits autophagic machinery essential for zinc homeostasis in cancer progression

Wenjing Xiao, Jianqun Wang, Xiaojing Wang, Shuang Cai, Yanhua Guo, Lin Ye, Dan Li, Anpei Hu, Shikai Jin, Boling Yuan, Yi Zhou, Qilan Li, Qiangsong Tong, Liduan Zheng

Autophagy. 2022; 18(11): 2615–2635. Published online 2022 Mar 6. doi: 10.1080/15548627.2022.2044651

PMCID:: PMC9629121

Abstract Article PDF–8.1M

Select item 954034520.

The in vivo Interaction Landscape of Histones H3.1 and H3.3

Robert Siddaway, Scott Milos, Étienne Coyaud, Hwa Young Yun, Shahir M. Morcos, Sanja Pajovic, Eric I. Campos, Brian Raught, Cynthia Hawkins

Mol Cell Proteomics. 2022 Oct; 21(10): 100411. Published online 2022 Sep 9. doi: 10.1016/j.mcpro.2022.100411

PMCID:: PMC9540345

Abstract Article PDF–3.9M

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