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Items: 1 to 20 of 159

1.
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease
Annalisa Schaub, Hannes Erdmann, Veronika Scholz, Manuela Timmer, Isabell Cordts, Rene Günther, Peter Reilich, Angela Abicht, Florian Schöberl
J Neurol. 2024; 271(9): 5804–5812. Published online 2024 Jun 25. doi: 10.1007/s00415-024-12519-6
PMCID:
PMC11377604
ArticlePDF–1.0M
2.
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
ArticlePDF–1.7M
3.
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
ArticlePDF–3.0M
4.
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
ArticlePDF–891K
5.
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
ArticlePDF–2.9M
6.
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
ArticlePDF–696K
7.
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
ArticlePDF–2.0M
8.
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
ArticlePDF–224K
9.
Multisite phosphorylation dictates selective E2-E3 pairing as revealed by Ubc8/UBE2H-GID/CTLH assemblies
Jakub Chrustowicz, Dawafuti Sherpa, Jerry Li, Christine R. Langlois, Eleftheria C. Papadopoulou, D. Tung Vu, Laura A. Hehl, Özge Karayel, Viola Beier, Susanne von Gronau, Judith Müller, J. Rajan Prabu, Matthias Mann, Gary Kleiger, Arno F. Alpi, Brenda A. Schulman
Mol Cell. Author manuscript; available in PMC 2025 Jan 18.
Published in final edited form as: Mol Cell. 2024 Jan 18; 84(2): 293–308.e14. Published online 2023 Dec 18. doi: 10.1016/j.molcel.2023.11.027
PMCID:
PMC10843684
ArticlePDF–3.1M
10.
Cranial Nerve Thinning Distinguishes RFC1‐Related Disorder from Other Late‐Onset Ataxias
Camila C. Lobo, Guilherme S.O. Wertheimer, Gabriel S. Schmitt, Paula C.A.A.P. Matos, Thiago J.R. Rezende, Joyce M. Silva, Fabrício C. Borba, Fabrício D. Lima, Alberto R.M. Martinez, Orlando G.P. Barsottini, José Luiz Pedroso, Wilson Marques, Jr, Marcondes C. França, Jr
Mov Disord Clin Pract. 2024 Jan; 11(1): 45–52. Published online 2023 Nov 29. doi: 10.1002/mdc3.13930
PMCID:
PMC10828611
ArticlePDF–2.2M
11.
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
ArticlePDF–582K
12.
SND1 binds SARS-CoV-2 negative-sense RNA and promotes viral RNA synthesis through NSP9
Nora Schmidt, Sabina Ganskih, Yuanjie Wei, Alexander Gabel, Sebastian Zielinski, Hasmik Keshishian, Caleb A. Lareau, Liv Zimmermann, Jana Makroczyova, Cadence Pearce, Karsten Krey, Thomas Hennig, Sebastian Stegmaier, Lambert Moyon, Marc Horlacher, Simone Werner, Jens Aydin, Marco Olguin-Nava, Ramya Potabattula, Anuja Kibe, Lars Dölken, Redmond P. Smyth, Neva Caliskan, Annalisa Marsico, Christine Krempl, Jochen Bodem, Andreas Pichlmair, Steven A. Carr, Petr Chlanda, Florian Erhard, Mathias Munschauer
Cell. 2023 Oct 26; 186(22): 4834–4850.e23. doi: 10.1016/j.cell.2023.09.002
PMCID:
PMC10617981
Article
13.
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
ArticlePDF–2.0M
14.
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
ArticlePDF–3.7M
15.
Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy
Andreas Traschütz, Felix Heindl, Muhammad Bilal, Annette M. Hartmann, Claudia Dufke, Olaf Riess, Andreas Zwergal, Dan Rujescu, Tobias Haack, Matthis Synofzik, Michael Strupp
Neurology. 2023 Sep 5; 101(10): e1001–e1013. doi: 10.1212/WNL.0000000000207553
PMCID:
PMC10491447
ArticlePDF–531K
16.
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
ArticlePDF–2.4M
17.
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
ArticlePDF–23M
18.
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
ArticlePDF–3.8M
19.
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
ArticlePDF–2.9M
20.
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
ArticlePDF–4.0M

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