The Fanconi anaemia pathway: new players and new functions

Massimo Bogliolo, Jordi Surrallés, Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics Current Opinion in Genetics & Development. ,vol. 33, pp. 32- 40 ,(2015) , 10.1016/J.GDE.2015.07.002

Nuria Seguí, Leonardo B Mina, Conxi Lázaro, Rebeca Sanz-Pamplona, Tirso Pons, Matilde Navarro, Fernando Bellido, Adriana López-Doriga, Rafael Valdés-Mas, Marta Pineda, Elisabet Guinó, August Vidal, José Luís Soto, Trinidad Caldés, Mercedes Durán, Miguel Urioste, Daniel Rueda, Joan Brunet, Milagros Balbín, Pilar Blay, Silvia Iglesias, Pilar Garré, Enrique Lastra, Ana Beatriz Sánchez-Heras, Alfonso Valencia, Victor Moreno, Miguel Ángel Pujana, Alberto Villanueva, Ignacio Blanco, Gabriel Capellá, Jordi Surrallés, Xose S Puente, Laura Valle, Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair Gastroenterology. ,vol. 149, pp. 563- 566 ,(2015) , 10.1053/J.GASTRO.2015.05.056

Martin R. Higgs, John J. Reynolds, Alicja Winczura, Andrew N. Blackford, Valérie Borel, Edward S. Miller, Anastasia Zlatanou, Jadwiga Nieminuszczy, Ellis L. Ryan, Nicholas J. Davies, Tatjana Stankovic, Simon J. Boulton, Wojciech Niedzwiedz, Grant S. Stewart, BOD1L Is Required to Suppress Deleterious Resection of Stressed Replication Forks. Molecular Cell. ,vol. 59, pp. 462- 477 ,(2015) , 10.1016/J.MOLCEL.2015.06.007

Anderson T. Wang, Taeho Kim, John E. Wagner, Brooke A. Conti, Francis P. Lach, Athena L. Huang, Henrik Molina, Erica M. Sanborn, Heather Zierhut, Belinda K. Cornes, Avinash Abhyankar, Carrie Sougnez, Stacey B. Gabriel, Arleen D. Auerbach, Stephen C. Kowalczykowski, Agata Smogorzewska, A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination Molecular Cell. ,vol. 59, pp. 478- 490 ,(2015) , 10.1016/J.MOLCEL.2015.07.009

Jennifer A. Miles, Mark G. Frost, Eilis Carroll, Michelle L. Rowe, Mark J. Howard, Ateesh Sidhu, Viduth K. Chaugule, Arno F. Alpi, Helen Walden, The Fanconi Anemia DNA Repair Pathway Is Regulated by an Interaction between Ubiquitin and the E2-like Fold Domain of FANCL Journal of Biological Chemistry. ,vol. 290, pp. 20995- 21006 ,(2015) , 10.1074/JBC.M115.675835

Asuka Hira, Kenichi Yoshida, Koichi Sato, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Akira Shimamoto, Hidetoshi Tahara, Etsuro Ito, Seiji Kojima, Hitoshi Kurumizaka, Seishi Ogawa, Minoru Takata, Hiromasa Yabe, Miharu Yabe, Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia American Journal of Human Genetics. ,vol. 96, pp. 1001- 1007 ,(2015) , 10.1016/J.AJHG.2015.04.022

Magda Budzowska, Thomas GW Graham, Alexandra Sobeck, Shou Waga, Johannes C Walter, Regulation of the Rev1–pol ζ complex during bypass of a DNA interstrand cross‐link The EMBO Journal. ,vol. 34, pp. 1971- 1985 ,(2015) , 10.15252/EMBJ.201490878

Patricia L Kannouche, Jonathan Wing, Alan R Lehmann, Interaction of Human DNA Polymerase η with Monoubiquitinated PCNA: A Possible Mechanism for the Polymerase Switch in Response to DNA Damage Molecular Cell. ,vol. 14, pp. 491- 500 ,(2004) , 10.1016/S1097-2765(04)00259-X

Raphael Ceccaldi, Beatrice Rondinelli, Alan D. D’Andrea, Repair Pathway Choices and Consequences at the Double-Strand Break Trends in Cell Biology. ,vol. 26, pp. 52- 64 ,(2016) , 10.1016/J.TCB.2015.07.009

Elizabeth L. Virts, Anna Jankowska, Craig Mackay, Marcel F. Glaas, Constanze Wiek, Stephanie L. Kelich, Nadine Lottmann, Felicia M. Kennedy, Christophe Marchal, Erik Lehnert, Rüdiger E. Scharf, Carlo Dufour, Marina Lanciotti, Piero Farruggia, Alessandra Santoro, Süreyya Savasan, Kathrin Scheckenbach, Jörg Schipper, Martin Wagenmann, Todd Lewis, Michael Leffak, Janice L. Farlow, Tatiana M. Foroud, Ellen Honisch, Dieter Niederacher, Sujata C. Chakraborty, Gail H. Vance, Dmitry Pruss, Kirsten M. Timms, Jerry S. Lanchbury, Arno F. Alpi, Helmut Hanenberg, AluY-mediated Germline Deletion, Duplication and Somatic Stem Cell Reversion in UBE2T Defines a New Subtype of Fanconi Anemia Human Molecular Genetics. ,vol. 24, pp. 5093- 5108 ,(2015) , 10.1093/HMG/DDV227