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Items: 1 to 20 of 142

1.
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
2.
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
3.
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
4.
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
5.
Investigating RFC1 Expansions in Sporadic Amyotrophic Lateral Sclerosis
Yevgenya Abramzon, Ramita Dewan, Andrea Cortese, Susan Resnick, Luigi Ferrucci, Henry Houlden, Bryan J. Traynor
J Neurol Sci. Author manuscript; available in PMC 2022 Nov 15.
Published in final edited form as: J Neurol Sci. 2021 Nov 15; 430: 118061. Published online 2021 Aug 31. doi: 10.1016/j.jns.2021.118061
PMCID:
PMC9014296
AbstractArticlePDF–903K
6.
RFC1 expansions are a common cause of idiopathic sensory neuropathy
Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli, Francesca Castellani, Elisa Vegezzi, Pietro Businaro, Ilaria Callegari, Anna Pichiecchio, Giuseppe Cosentino, Enrico Alfonsi, Enrico Marchioni, Silvia Colnaghi, Simone Gana, Enza Maria Valente, Cristina Tassorelli, Stephanie Efthymiou, Stefano Facchini, Aisling Carr, Matilde Laura, Alexander M Rossor, Hadi Manji, Michael P Lunn, Elena Pegoraro, Lucio Santoro, Marina Grandis, Emilia Bellone, Nicholas J Beauchamp, Marios Hadjivassiliou, Diego Kaski, Adolfo M Bronstein, Henry Houlden, Mary M Reilly, Paola Mandich, Angelo Schenone, Fiore Manganelli, Chiara Briani, Andrea Cortese
Brain. 2021 May; 144(5): 1542–1550. Published online 2021 May 9. doi: 10.1093/brain/awab072
PMCID:
PMC8262986
AbstractArticlePDF–780K
7.
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
Andreas Traschütz, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Heike Jacobi, Annette M. Hartmann, Dan Rujescu, Solveig Montaut, Andoni Echaniz-Laguna, Sevda Erer, Valerie Cornelia Schütz, Alexander A. Tarnutzer, Marc Sturm, Tobias B. Haack, Nadège Vaucamps-Diedhiou, Helene Puccio, Ludger Schöls, Thomas Klockgether, Bart P. van de Warrenburg, Martin Paucar, Dagmar Timmann, Ralf-Dieter Hilgers, Jose Gazulla, Michael Strupp, German Moris, Alessandro Filla, Henry Houlden, Mathieu Anheim, Jon Infante, A. Nazli Basak, Matthis Synofzik, on behalf of the RFC1 Study Group
Neurology. 2021 Mar 2; 96(9): e1369–e1382. doi: 10.1212/WNL.0000000000011528
PMCID:
PMC8055326
AbstractArticlePDF–1.2M
8.
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Carolin K Scriba, Sarah J Beecroft, Joshua S Clayton, Andrea Cortese, Roisin Sullivan, Wai Yan Yau, Natalia Dominik, Miriam Rodrigues, Elizabeth Walker, Zoe Dyer, Teddy Y Wu, Mark R Davis, David C Chandler, Ben Weisburd, Henry Houlden, Mary M Reilly, Nigel G Laing, Phillipa J Lamont, Richard H Roxburgh, Gianina Ravenscroft
Brain. 2020 Oct; 143(10): 2904–2910. Published online 2020 Oct 25. doi: 10.1093/brain/awaa263
Correction in:
Brain. 2021 May; 144(5): e51.
PMCID:
PMC7780484
AbstractArticlePDF–819K
9.
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
Sarah J Beecroft, Andrea Cortese, Roisin Sullivan, Wai Yan Yau, Zoe Dyer, Teddy Y Wu, Eoin Mulroy, Luciana Pelosi, Miriam Rodrigues, Rachael Taylor, Stuart Mossman, Ruth Leadbetter, James Cleland, Tim Anderson, Gianina Ravenscroft, Nigel G Laing, Henry Houlden, Mary M Reilly, Richard H Roxburgh
Brain. 2020 Sep; 143(9): 2673–2680. Published online 2020 Aug 27. doi: 10.1093/brain/awaa203
PMCID:
PMC7526724
AbstractArticlePDF–747K
10.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L.M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew M. Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmagyi, Solange Kapetanovic, Anthony Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan L. Perlman, Ian Rosemergy, Elsdon Storey, Shaun R.D. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart
Am J Hum Genet. 2019 Jul 3; 105(1): 151–165. Published online 2019 Jun 20. doi: 10.1016/j.ajhg.2019.05.016
PMCID:
PMC6612533
AbstractArticlePDF–2.2M
11.
Kaposi's sarcoma-associated herpesvirus LANA recruits the DNA polymerase clamp loader to mediate efficient replication and virus persistence
Qiming Sun, Toshiki Tsurimoto, Franceline Juillard, Lin Li, Shijun Li, Erika De León Vázquez, She Chen, Kenneth Kaye
Proc Natl Acad Sci U S A. 2014 Aug 12; 111(32): 11816–11821. Published online 2014 Jul 28. doi: 10.1073/pnas.1404219111
Correction in:
Proc Natl Acad Sci U S A. 2014 Sep 30; 111(39): 14308.
PMCID:
PMC4136584
AbstractArticlePDF–1.3M
12.
Replication Factor C1, the Large Subunit of Replication Factor C, Is Proteolytically Truncated in Hutchinson-Gilford Progeria Syndrome
Hui Tang, Benjamin Hilton, Phillip R. Musich, Ding Zhi Fang, Yue Zou
Aging Cell. Author manuscript; available in PMC 2013 Apr 1.
Published in final edited form as: Aging Cell. 2012 Apr; 11(2): 363–365. Published online 2012 Jan 13. doi: 10.1111/j.1474-9726.2011.00779.x
PMCID:
PMC3306506
AbstractArticlePDF–452K
13.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke, Muhammad Ilyas, Eloise Tribollet, Pedro J. Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stephanie Efthymiou, Diego Kaski, Nick W. Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo Bronstein, Pietro Fratta, Wilson J. Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden
Nat Genet. Author manuscript; available in PMC 2019 Aug 26.
Published in final edited form as: Nat Genet. 2019 Apr; 51(4): 649–658. Published online 2019 Mar 29. doi: 10.1038/s41588-019-0372-4
Correction in:
Nat Genet. 2019 May; 51(5): 920.
PMCID:
PMC6709527
AbstractArticlePDF–1.1M
14.
Phosphorylation of Serine 51 Regulates the Interaction of Human DNA Ligase I with Replication Factor C and Its Participation in DNA Replication and Repair
Zhimin Peng, Zhongping Liao, Barbara Dziegielewska, Yoshi Matsumoto, Stefani Thomas, Yunhu Wan, Austin Yang, Alan E. Tomkinson
J Biol Chem. 2012 Oct 26; 287(44): 36711–36719. Published online 2012 Sep 4. doi: 10.1074/jbc.M112.383570
PMCID:
PMC3481275
AbstractArticlePDF–1.6M
15.
Structure of the DNA-bound BRCA1 C-terminal Region from Human Replication Factor C p140 and Model of the Protein-DNA Complex
Masakazu Kobayashi, Eiso AB, Alexander M. J. J. Bonvin, Gregg Siegal
J Biol Chem. 2010 Mar 26; 285(13): 10087–10097. Published online 2010 Jan 15. doi: 10.1074/jbc.M109.054106
PMCID:
PMC2843171
AbstractArticlePDF–3.4M
16.
Human Replication Factor C Stimulates Flap Endonuclease 1
Il-taeg Cho, Do-hyung Kim, Young-Hoon Kang, Chul-Hwan Lee, Tamir Amangyelid, Tuan Anh Nguyen, Jerard Hurwitz, Yeon-Soo Seo
J Biol Chem. 2009 Apr 17; 284(16): 10387–10399. doi: 10.1074/jbc.M808893200
PMCID:
PMC2667726
AbstractArticlePDF–946K
17.
Phosphorylation of Human DNA Ligase I Regulates Its Interaction with Replication Factor C and Its Participation in DNA Replication and DNA Repair
Sangeetha Vijayakumar, Barbara Dziegielewska, David S. Levin, Wei Song, Jinhu Yin, Austin Yang, Yoshihiro Matsumoto, Vladimir P. Bermudez, Jerard Hurwitz, Alan E. Tomkinson
Mol Cell Biol. 2009 Apr; 29(8): 2042–2052. Published online 2009 Feb 17. doi: 10.1128/MCB.01732-08
PMCID:
PMC2663303
AbstractArticlePDF–1.5M
18.
The large subunit of replication factor C is a substrate for caspase-3 in vitro and is cleaved by a caspase-3-like protease during Fas-mediated apoptosis.
E Rhéaume, L Y Cohen, F Uhlmann, C Lazure, A Alam, J Hurwitz, R P Sékaly, F Denis
EMBO J. 1997 Nov 3; 16(21): 6346–6354. doi: 10.1093/emboj/16.21.6346
PMCID:
PMC1170241
SummaryPDF–459K
19.
Cloning, expression, and chromosomal localization of the 140-kilodalton subunit of replication factor C from mice and humans.
B Luckow, F Bunz, B Stillman, P Lichter, G Schütz
Mol Cell Biol. 1994 Mar; 14(3): 1626–1634. doi: 10.1128/mcb.14.3.1626
PMCID:
PMC358521
SummaryPage BrowsePDF–2.3M
20.
DNA recognition properties of the N-terminal DNA binding domain within the large subunit of replication factor C.
B L Allen, F Uhlmann, L K Gaur, B A Mulder, K L Posey, L B Jones, S H Hardin
Nucleic Acids Res. 1998 Sep 1; 26(17): 3877–3882. doi: 10.1093/nar/26.17.3877
PMCID:
PMC147807
SummaryPDF–170K

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