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Items: 1 to 20 of 150

1.
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
AbstractArticlePDF–891K
2.
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
AbstractArticlePDF–2.9M
3.
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
AbstractArticlePDF–696K
4.
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
AbstractArticlePDF–2.0M
5.
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
AbstractArticlePDF–224K
6.
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
AbstractArticlePDF–582K
7.
CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy
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
AbstractArticlePDF–2.0M
8.
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
9.
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
10.
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
AbstractArticlePDF–3.8M
11.
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
12.
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
AbstractArticlePDF–4.0M
13.
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
AbstractArticlePDF–3.0M
14.
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
AbstractArticlePDF–8.4M
15.
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
AbstractArticlePDF–683K
16.
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
17.
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
18.
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
AbstractArticlePDF–8.5M
19.
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
AbstractArticlePDF–8.1M
20.
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
AbstractArticlePDF–3.9M

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