Defective DNA Damage Responses in Dominant Neurodegenerative Diseases

Informations projet

SIDSCA

N° de convention de subvention: 694996

DOI 10.3030/694996

Projet clôturé

Date de signature de la CE 6 Juin 2016

Date de début 1 Octobre 2016

Date de fin 31 Mars 2022

Financé au titre de

• EXCELLENT SCIENCE - European Research Council (ERC)

Coût total € 2 447 409,00

Contribution de l’UE € 2 447 409,00

Coordonné par

THE UNIVERSITY OF SUSSEX
United Kingdom

Publications

Peer reviewed articles (11)

XRCC1 prevents toxic PARP1 trapping during DNA base excision repair

Auteurs: Annie A. Demin Kouji Hirota Masataka Tsuda Marek Adamowicz Richard Hailstone Jan Brazina William Gittens Ilona Kalasova Zhengping Shao Shan Zha Hiroyuki Sasanuma Hana Hanzlikova Shunichi Takeda Keith W. Caldecott
Publié dans: Molecular Cell, 2021, ISSN 1097-2765
Éditeur: Cell Press
DOI: 10.1016/j.molcel.2021.05.009

Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair

Auteurs: Ilona Kalasova, Richard Hailstone, Janin Bublit, Jovel Bogantes, Winfried Hofmann,Alejandro Leal, Hana Hanzlikova, Keith W. Caldecott
Publié dans: Nucleic Acids Research, 2020, ISSN 0305-1048
Éditeur: Oxford University Press
DOI: 10.1093/nar/gkaa489

The Importance of Poly(ADP-Ribose) Polymerase as a Sensor of Unligated Okazaki Fragments during DNA Replication

Auteurs: Hana Hanzlikova, Ilona Kalasova, Annie A. Demin, Lewis E. Pennicott, Zuzana Cihlarova, Keith W. Caldecott
Publié dans: Molecular Cell, Numéro 71/2, 2018, Page(s) 319-331.e3, ISSN 1097-2765
Éditeur: Cell Press
DOI: 10.1016/j.molcel.2018.06.004

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Auteurs: Guido Zagnoli-Vieira, BSc, Francesco Bruni, PhD,* Kyle Thompson, PhD, Langping He, MD, PhD, Sarah Walker, PhD, Arjan P.M. de Brouwer, PhD, Robert Taylor, PhD, FRCPath, Dmitriy Niyazov, MD, and Keith W. Caldecott, PhD
Publié dans: Neurology Genetics, Numéro 4/5, 2018, Page(s) e277, ISSN 2376-7839
Éditeur: Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
DOI: 10.1212/NXG.0000000000000277

FUS (fused in sarcoma) is a component of the cellular response to topoisomerase I–induced DNA breakage and transcriptional stress

Auteurs: Maria Isabel Martinez-Macias, Duncan AQ Moore, Ryan L Green, Fernando Gomez-Herreros, Marcel Naumann, Andreas Hermann, Philip Van Damme, Majid Hafezparast, Keith W Caldecott
Publié dans: Life Science Alliance, Numéro 2/2, 2019, Page(s) e201800222, ISSN 2575-1077
Éditeur: Life Science Alliance
DOI: 10.26508/lsa.201800222

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ

Auteurs: Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott
Publié dans: Neurology Genetics, Numéro 5/2, 2019, Page(s) e320, ISSN 2376-7839
Éditeur: Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
DOI: 10.1212/nxg.0000000000000320

Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

Auteurs: Areej Mahjoub, Zuzana Cihlarova, Martine Tétreault, Lauren MacNeil, Neal Sondheimer, Keith W. Caldecott, Hana Hanzlikova, Grace Yoon
Publié dans: Neurology Genetics, Numéro 5/5, 2019, Page(s) e359, ISSN 2376-7839
Éditeur: Wolters Kluwer Health, Inc for the American Academy of Neurology.
DOI: 10.1212/nxg.0000000000000359

Neuronal enhancers are hotspots for DNA single-strand break repair.

Auteurs: Wei Wu, Sarah E. Hill, William J. Nathan, Jacob Paiano, Elsa Callen1, Dongpeng Wan, Kenta Shinoda, Niek van Wietmarschen, Jennifer M. Colón-Mercado2, Dali Zon, Raffaella De Pace, Han-Yu Shih, Steve Coon, Maia Parsadanian, Raphael Pavani, Hana Hanzlikova, Solji Park, Seol Kyoung Jung, Peter J. McHugh, Andres Canela, Chongyi Chen1, Rafael Casellas, Keith W. Caldecott, Michael E. Ward, André Nussen
Publié dans: Nature, 2022, ISSN 0028-0836
Éditeur: Nature Publishing Group
DOI: 10.1038/s41586-021-03468-5

Parp1 hyperactivity couples DNA breaks to aberrant neuronal calcium signalling and lethal seizures

Auteurs: Emilia Komulainen, Jack Badman, Stephanie Rey, Stuart Rulten, Limei Ju, Kate Fennell,Ilona Kalasova, Kristyna Ilievova, Peter J McKinnon, Hana Hanzlikova, Kevin Staras,Keith W Caldecott
Publié dans: EMBO Reports, 2021, ISSN 1469-221X
Éditeur: Nature Publishing Group
DOI: 10.15252/embr.202051851

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

Auteurs: Hana Hanzlikova, Evgeniia Prokhorova, Katerina Krejcikova, Zuzana Cihlarova, Ilona Kalasova, Jan Kubovciak, Jana Sachova, Richard Hailstone, Jan Brazina, Shereen Ghosh, Sebahattin Cirak,Joseph G. Gleeson, Ivan Ahel,Keith W. Caldecott
Publié dans: Nature Communications, 2020, ISSN 2041-1723
Éditeur: Nature Publishing Group
DOI: 10.1038/s41467-020-17069-9

XRCC1 protects transcription from toxic PARP1 activity during DNA base excision repair.

Auteurs: Adamowicz, M., Hailstone, R., Demin, A.A., Komulainen, E., Hanzlikova, H., Brazina, J., Gautam, A., Wells, S.E., and Caldecott, K.W.
Publié dans: Nature Cell Biology, 2021, ISSN 1465-7392
Éditeur: Nature Publishing Group
DOI: 10.1038/s41556-021-00792-w