Defective DNA Damage Responses in Dominant Neurodegenerative Diseases

Pubblicazioni

XRCC1 prevents toxic PARP1 trapping during DNA base excision repair

Autori: 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
Pubblicato in: Molecular Cell, 2021, ISSN 1097-2765
Editore: 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

Autori: Ilona Kalasova, Richard Hailstone, Janin Bublit, Jovel Bogantes, Winfried Hofmann,Alejandro Leal, Hana Hanzlikova, Keith W. Caldecott
Pubblicato in: Nucleic Acids Research, 2020, ISSN 0305-1048
Editore: 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

Autori: Hana Hanzlikova, Ilona Kalasova, Annie A. Demin, Lewis E. Pennicott, Zuzana Cihlarova, Keith W. Caldecott
Pubblicato in: Molecular Cell, Numero 71/2, 2018, Pagina/e 319-331.e3, ISSN 1097-2765
Editore: Cell Press
DOI: 10.1016/j.molcel.2018.06.004

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

Autori: 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
Pubblicato in: Neurology Genetics, Numero 4/5, 2018, Pagina/e e277, ISSN 2376-7839
Editore: 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

Autori: 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
Pubblicato in: Life Science Alliance, Numero 2/2, 2019, Pagina/e e201800222, ISSN 2575-1077
Editore: Life Science Alliance
DOI: 10.26508/lsa.201800222

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

Autori: Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott
Pubblicato in: Neurology Genetics, Numero 5/2, 2019, Pagina/e e320, ISSN 2376-7839
Editore: 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

Autori: Areej Mahjoub, Zuzana Cihlarova, Martine Tétreault, Lauren MacNeil, Neal Sondheimer, Keith W. Caldecott, Hana Hanzlikova, Grace Yoon
Pubblicato in: Neurology Genetics, Numero 5/5, 2019, Pagina/e e359, ISSN 2376-7839
Editore: 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.

Autori: 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
Pubblicato in: Nature, 2022, ISSN 0028-0836
Editore: Nature Publishing Group
DOI: 10.1038/s41586-021-03468-5

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

Autori: 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
Pubblicato in: EMBO Reports, 2021, ISSN 1469-221X
Editore: Nature Publishing Group
DOI: 10.15252/embr.202051851

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

Autori: 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
Pubblicato in: Nature Communications, 2020, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-020-17069-9

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

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

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