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Items: 1 to 20 of 39

1.
Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family
Ildikó Császár, Tibor Kalmár, Zoltán Maróti, János Ávéd, Edit Szederkényi, János Zombori, Gabriella Pankotai-Bodó, Sándor Turkevi-Nagy, Béla Iványi
Int J Mol Sci. 2024 Jun; 25(11): 5907. Published online 2024 May 29. doi: 10.3390/ijms25115907
PMCID:
PMC11172681
AbstractArticlePDF–3.5M
2.
FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism
Ashutosh S. Phadte, Mayuri Bhatia, Hope Ebert, Haaris Abdullah, Essam Abed Elrazaq, Konstantin E. Komolov, Anna Pluciennik
Proc Natl Acad Sci U S A. 2023 Aug 15; 120(33): e2302103120. Published online 2023 Aug 7. doi: 10.1073/pnas.2302103120
PMCID:
PMC10438374
AbstractArticlePDF–2.1M
3.
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1
Merlin Airik, Yu Leng Phua, Amy B Huynh, Blake T McCourt, Brittney M Rush, Roderick J Tan, Jerry Vockley, Susan L Murray, Anthony Dorman, Peter J Conlon, Rannar Airik
Kidney Int. Author manuscript; available in PMC 2023 Nov 1.
Published in final edited form as: Kidney Int. 2022 Nov; 102(5): 1042–1056. Published online 2022 Aug 2. doi: 10.1016/j.kint.2022.07.003
PMCID:
PMC9588672
AbstractArticlePDF–3.0M
4.
Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205
PMCID:
PMC9348576
AbstractArticlePDF–3.0M
5.
Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
Branduff McAllister, Jasmine Donaldson, Caroline S. Binda, Sophie Powell, Uroosa Chughtai, Gareth Edwards, Joseph Stone, Sergey Lobanov, Linda Elliston, Laura-Nadine Schuhmacher, Elliott Rees, Georgina Menzies, Marc Ciosi, Alastair Maxwell, Michael J. Chao, Eun Pyo Hong, Diane Lucente, Vanessa Wheeler, Jong-Min Lee, Marcy E. MacDonald, Jeffrey D. Long, Elizabeth H. Aylward, G. Bernhard Landwehrmeyer, Anne E. Rosser, REGISTRY Investigators of the European Huntington’s disease network, Jane S. Paulsen, PREDICT-HD Investigators of the Huntington Study Group, Nigel M. Williams, James F. Gusella, Darren G. Monckton, Nicholas D. Allen, Peter Holmans, Lesley Jones, Thomas H. Massey
Nat Neurosci. 2022; 25(4): 446–457. Published online 2022 Apr 4. doi: 10.1038/s41593-022-01033-5
PMCID:
PMC8986535
AbstractArticlePDF–6.6M
6.
New insights on familial colorectal cancer type X syndrome
Felipe Antonio de Oliveira Garcia, Edilene Santos de Andrade, Henrique de Campos Reis Galvão, Cristina da Silva Sábato, Natália Campacci, Andre Escremin de Paula, Adriane Feijó Evangelista, Iara Viana Vidigal Santana, Matias Eliseo Melendez, Rui Manuel Reis, Edenir Inez Palmero
Sci Rep. 2022; 12: 2846. Published online 2022 Feb 18. doi: 10.1038/s41598-022-06782-8
PMCID:
PMC8857274
AbstractArticlePDF–1.0M
7.
FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington’s disease
Robert Goold, Joseph Hamilton, Thomas Menneteau, Michael Flower, Emma L. Bunting, Sarah G. Aldous, Antonio Porro, José R. Vicente, Nicholas D. Allen, Hilary Wilkinson, Gillian P. Bates, Alessandro A. Sartori, Konstantinos Thalassinos, Gabriel Balmus, Sarah J. Tabrizi
Cell Rep. 2021 Aug 31; 36(9): 109649. Published online 2021 Aug 31. doi: 10.1016/j.celrep.2021.109649
PMCID:
PMC8424649
AbstractArticlePDF–2.9M
8.
FANCD2-Associated Nuclease 1 Partially Compensates for the Lack of Exonuclease 1 in Mismatch Repair
Katja Kratz, Mariela Artola-Borán, Saho Kobayashi-Era, Gene Koh, Goncalo Oliveira, Shunsuke Kobayashi, Andreia Oliveira, Xueqing Zou, Julia Richter, Masataka Tsuda, Hiroyuki Sasanuma, Shunichi Takeda, Joanna I. Loizou, Alessandro A. Sartori, Serena Nik-Zainal, Josef Jiricny
Mol Cell Biol. 2021 Sep; 41(9): e00303-21. Prepublished online 2021 Jul 6. Published online 2021 Aug 24. doi: 10.1128/MCB.00303-21
PMCID:
PMC8384067
AbstractArticlePDF–916K
9.
New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene
Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa, Rim Goucha
BMC Med Genomics. 2021; 14: 160. Published online 2021 Jun 14. doi: 10.1186/s12920-021-01009-7
PMCID:
PMC8201669
AbstractArticlePDF–1.4M
10.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
11.
SLFN11 promotes CDT1 degradation by CUL4 in response to replicative DNA damage, while its absence leads to synthetic lethality with ATR/CHK1 inhibitors
Ukhyun Jo, Yasuhisa Murai, Sirisha Chakka, Lu Chen, Ken Cheng, Junko Murai, Liton Kumar Saha, Lisa M. Miller Jenkins, Yves Pommier
Proc Natl Acad Sci U S A. 2021 Feb 9; 118(6): e2015654118. Published online 2021 Feb 3. doi: 10.1073/pnas.2015654118
PMCID:
PMC8017720
AbstractArticlePDF–1.9M
12.
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders
Amit L. Deshmukh, Antonio Porro, Mohiuddin Mohiuddin, Stella Lanni, Gagan B. Panigrahi, Marie-Christine Caron, Jean-Yves Masson, Alessandro A. Sartori, Christopher E. Pearson
J Huntingtons Dis. 2021; 10(1): 95–122. Published online 2021 Feb 9. doi: 10.3233/JHD-200448
PMCID:
PMC7990447
AbstractArticlePDF–2.1M
13.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects
Kyung-Hee Kim, Eun Pyo Hong, Jun Wan Shin, Michael J. Chao, Jacob Loupe, Tammy Gillis, Jayalakshmi S. Mysore, Peter Holmans, Lesley Jones, Michael Orth, Darren G. Monckton, Jeffrey D. Long, Seung Kwak, Ramee Lee, James F. Gusella, Marcy E. MacDonald, Jong-Min Lee
Am J Hum Genet. 2020 Jul 2; 107(1): 96–110. Published online 2020 Jun 25. doi: 10.1016/j.ajhg.2020.05.012
PMCID:
PMC7332667
AbstractArticlePDF–938K
14.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
15.
Importance of homo-dimerization of Fanconi-associated nuclease 1 in DNA flap cleavage
Timsi Rao, Simonne Longerich, Weixing Zhao, Hideki Aihara, Patrick Sung, Yong Xiong
DNA Repair (Amst) 2018 Apr; 64: 53–58. Published online 2018 Feb 21. doi: 10.1016/j.dnarep.2018.02.007
PMCID:
PMC7105229
AbstractArticlePDF–1.1M
16.
FAN1 modifies Huntington’s disease progression by stabilizing the expanded HTT CAG repeat
Robert Goold, Michael Flower, Davina Hensman Moss, Chris Medway, Alison Wood-Kaczmar, Ralph Andre, Pamela Farshim, Gill P Bates, Peter Holmans, Lesley Jones, Sarah J Tabrizi
Hum Mol Genet. 2019 Feb 15; 28(4): 650–661. Published online 2018 Oct 24. doi: 10.1093/hmg/ddy375
PMCID:
PMC6360275
AbstractArticlePDF–9.8M
17.
FAN1 interaction with ubiquitylated PCNA alleviates replication stress and preserves genomic integrity independently of BRCA2
Antonio Porro, Matteo Berti, Julia Pizzolato, Serena Bologna, Svenja Kaden, Anja Saxer, Yue Ma, Kazuo Nagasawa, Alessandro A. Sartori, Josef Jiricny
Nat Commun. 2017; 8: 1073. Published online 2017 Oct 20. doi: 10.1038/s41467-017-01074-6
Correction in:
Nat Commun. 2017; 8: 2285.
PMCID:
PMC5648898
AbstractArticlePDF–3.9M
18.
Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism
Giulia Antoniali, Fabrizio Serra, Lisa Lirussi, Mikiei Tanaka, Chiara D’Ambrosio, Shiheng Zhang, Slobodanka Radovic, Emiliano Dalla, Yari Ciani, Andrea Scaloni, Mengxia Li, Silvano Piazza, Gianluca Tell
Nat Commun. 2017; 8: 797. Published online 2017 Oct 6. doi: 10.1038/s41467-017-00842-8
PMCID:
PMC5630600
AbstractArticlePDF–2.3M
19.
Systematic protein–protein interaction mapping for clinically relevant human GPCRs
Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar
Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430
PMCID:
PMC5371730
AbstractArticlePDF–4.1M
20.
Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family
Xu Li, Kim My Tran, Kathryn E. Aziz, Alexey V. Sorokin, Junjie Chen, Wenqi Wang
Mol Cell Proteomics. 2016 Sep; 15(9): 3030–3044. Published online 2016 Jul 18. doi: 10.1074/mcp.M116.060277
PMCID:
PMC5013315
AbstractArticlePDF–3.2M

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