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Martin Digweed

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Bastian Salewsky; Petra Wessendorf; Daniel Hirsch; Harald Krenzlin; Martin Digweed
Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.
Bastian Salewsky; Detlev Schindler; Maren Schmiester; Martin Digweed; Ilja Demuth
The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.
Harald Krenzlin; Bastian Salewsky; Kathrin Weidele; Petra Wessendorf; Alexander Bürkle; Ilja Demuth; Martin Digweed
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress.

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All Publications

2013: Bastian Salewsky; Petra Wessendorf; Daniel Hirsch; Harald Krenzlin; Martin Digweed
Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.
Gene 2013;519(2):217-21.
2012: Bastian Salewsky; Detlev Schindler; Maren Schmiester; Martin Digweed; Ilja Demuth
The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.
Human molecular genetics 2012;21(22):4948-56.
2012: Harald Krenzlin; Bastian Salewsky; Kathrin Weidele; Petra Wessendorf; Alexander Bürkle; Ilja Demuth; Martin Digweed
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress.
PLoS genetics 2012;8(3):e1002557.
2012: Krystyna H Chrzanowska; Bożenna Dembowska-Bagińska; Hanna Gregorek; Maria A Kalina; Martin Digweed
Nijmegen breakage syndrome (NBS).
Orphanet journal of rare diseases 2012;7():13.
2011: Ilja Demuth; Martin Digweed; Petja S Dimova; Thilo Dörk; Véronique Dutrannoy; Timm O Goecke; Luitgard M Graul-Neumann; Hanna Gregorek; Ursula Gruber-Sedlmayr; Csongor Kiss; Peter Michael Kroisel; Charles Marques Lourenco; Wilson Marques; Heidemarie Neitzel; Marion Nicke; Eva Oláh; Detlev Schindler; Ilka Schulze; Sigrun Sodia; Karl Sperling; Katalin Szakszon; Beáta Bessenyei; Veneta Bojinova; Elcin Bora; Tufan Cankaya; Krystyna H Chrzanowska; Joaquim de Sá; Arpad von Moers; Raymonda Varon
New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics 2011;12(4):273-82.
2010: Marcus Eich; Wynand Roos; Grigory L Dianov; Martin Digweed; Bernd Kaina
Nijmegen breakage syndrome protein (NBN) causes resistance to methylating anticancer drugs such as temozolomide.
Molecular pharmacology 2010;78(5):943-51.
2010: Véronique Dutrannoy; Ilja Demuth; Ulrich Baumann; Detlev Schindler; Kateryna Konrat; Heidemarie Neitzel; Gabriele Gillessen-Kaesbach; Janina Radszewski; Susanne Rothe; Mario T Schellenberger; Gudrun Nürnberg; Peter Nürnberg; Keng Wee Teik; Revathy Nallusamy; André Reis; Karl Sperling; Martin Digweed; Raymonda Varon
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Human mutation 2010;31(9):1059-68.
2009: Stephan Lins; Ryong Kim; Lars Krüger; Krystyna H Chrzanowska; Eva Seemanova; Martin Digweed
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.
Gene 2009;447(1):12-7.
2009: Marco Anders; Jens Mattow; Martin Digweed; Ilja Demuth
Evidence for hSNM1B/Apollo functioning in the HSP70 mediated DNA damage response.
Cell cycle (Georgetown, Tex.) 2009;8(11):1725-32.
2009: Martin Digweed; Ilja Demuth; Lisa Wiesmüller
DNA repair 2008: Tenth Biennial Meeting of the German Society for Research on DNA Repair.
DNA repair 2009;8(3):424-8.
2009: Anna Melchers; Lars Stöckl; Janina Radszewski; Marco Anders; Harald Krenzlin; Candy Kalischke; Regina Scholz; Andreas Jordan; Grit Nebrich; Joachim Klose; Karl Sperling; Martin Digweed; Ilja Demuth
A systematic proteomic study of irradiated DNA repair deficient Nbn-mice.
PloS one 2009;4(5):e5423.
2008: Ilja Demuth; Paul S Bradshaw; Anika Lindner; Marco Anders; Stefanie Heinrich; Julia Kallenbach; Karin Schmelz; Martin Digweed; M Stephen Meyn; Patrick Concannon
Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation.
DNA repair 2008;7(8):1192-201.
2008: Tom Vulliamy; Richard Beswick; Michael Kirwan; Anna Marrone; Martin Digweed; Amanda Walne; Inderjeet Dokal
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(23):8073-8.
2008: Nadja Thierfelder; Ilja Demuth; Nadine Burghardt; Karin Schmelz; Karl Sperling; Krystyna H Chrzanowska; Eva Seemanova; Martin Digweed
Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.
European journal of cell biology 2008;87(2):111-21.
2007: Eva Seemanová; Petr Jarolim; Pavel Seeman; Raymonda Varon; Martin Digweed; Michael Swift; Karl Sperling
Cancer risk of heterozygotes with the NBN founder mutation.
Journal of the National Cancer Institute 2007;99(24):1875-80.
2007: Ilja Demuth; Martin Digweed
The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome.
Oncogene 2007;26(56):7792-8.
2007: Lars Krüger; Ilja Demuth; Heidemarie Neitzel; Raymonda Varon; Karl Sperling; Krystyna H Chrzanowska; Eva Seemanova; Martin Digweed
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.
Carcinogenesis 2007;28(1):107-11.
2006: Raymonda Varon; Véronique Dutrannoy; Georg Weikert; Caterina Tanzarella; Antonio Antoccia; Lars Stöckl; Emanuela Spadoni; Lars-Arne Krüger; Alessandra di Masi; Karl Sperling; Martin Digweed; Paola Maraschio
Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
Human molecular genetics 2006;15(5):679-89.
2006: Eva Seemanová; Karl Sperling; Heidemarie Neitzel; Raymonda Varon; Jan Hadac; O Butova; E Schröck; Pavel Seeman; Martin Digweed
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.
Journal of medical genetics 2006;43(3):218-24.
2005: Yun-Gui Yang; Zdenko Herceg; Koji Nakanishi; Ilja Demuth; Colette Piccoli; Jocelyne Michelon; Gabriele Hildebrand; Maria Jasin; Martin Digweed; Zhao-Qi Wang
The Fanconi anemia group A protein modulates homologous repair of DNA double-strand breaks in mammalian cells.
Carcinogenesis 2005;26(10):1731-40.
2005: Pierre-Olivier Frappart; Wei-Min Tong; Ilja Demuth; Ivan Radovanovic; Zdenko Herceg; Adriano Aguzzi; Martin Digweed; Zhao-Qi Wang
An essential function for NBS1 in the prevention of ataxia and cerebellar defects.
Nature medicine 2005;11(5):538-44.
2005: Neil V Morgan; Fahmida Essop; Ilja Demuth; T J L de Ravel; Stander Jansen; Marc Tischkowitz; Cathryn M Lewis; Linda Wainwright; Janet Poole; Hans Joenje; Martin Digweed; Amanda Krause; Christopher G Mathew
A common Fanconi anemia mutation in black populations of sub-Saharan Africa.
Blood 2005;105(9):3542-4.
2005: Sven Kracker; Yvonne Bergmann; Ilja Demuth; Pierre-Olivier Frappart; Gabriele Hildebrand; Rainer Christine; Zhao-Qi Wang; Karl Sperling; Martin Digweed; Andreas Radbruch
Nibrin functions in Ig class-switch recombination.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(5):1584-9.
2005: Koji Nakanishi; Yun-Gui Yang; Andrew J Pierce; Toshiyasu Taniguchi; Martin Digweed; Alan D D'Andrea; Zhao-Qi Wang; Maria Jasin
Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(4):1110-5.
2004: Ilja Demuth; Martin Digweed; Patrick Concannon
Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation.
Oncogene 2004;23(53):8611-8.
2004: Ilja Demuth; Pierre-Olivier Frappart; Gabriele Hildebrand; Anna Melchers; Stephan Lobitz; Lars Stöckl; Raymonda Varon; Zdenko Herceg; Karl Sperling; Zhao-Qi Wang; Martin Digweed
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.
Human molecular genetics 2004;13(20):2385-97.
2004: Martin Digweed; Karl Sperling
Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.
DNA repair 2004;3(8-9):1207-17.
2004: Reinhard Kalb; Michael Duerr; Matthias Wagner; Sabine Herterich; Michaela Gross; Martin Digweed; Hans Joenje; Holger Hoehn; Detlev Schindler
Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiation.
Radiation research 2004;161(3):318-25.
2003: Martin Digweed
Response to environmental carcinogens in DNA-repair-deficient disorders.
Toxicology 2003;193(1-2):111-24.
2003: Valérie Dumon-Jones; Pierre-Olivier Frappart; Wei-Min Tong; Giangadharan Sajithlal; Wolfgang Hulla; Gerald Schmid; Zdenko Herceg; Martin Digweed; Zhao-Qi Wang
Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis.
Cancer research 2003;63(21):7263-9.
2002: Martin Digweed; Ilja Demuth; Susanne Rothe; Regina Scholz; Andreas Jordan; Carsten Grötzinger; Detlev Schindler; Markus Grompe; Karl Sperling
SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11.
Oncogene 2002;21(32):4873-8.
2002: Martin Digweed; Susanne Rothe; Ilja Demuth; Regina Scholz; Detlev Schindler; Markus Stumm; Markus Grompe; Andreas Jordan; Karl Sperling
Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia.
Carcinogenesis 2002;23(7):1121-6.
2000: L Faivre; Philippe Guardiola; C Lewis; Inderjeet Dokal; Wolfram Ebell; Adriana Zatterale; Cigdem Altay; Janet Poole; David Stones; Mei Lan Kwee; M van Weel-Sipman; C Havenga; N Morgan; Johan P de Winter; Martin Digweed; Anna Savoia; J Pronk; T J L de Ravel; Stander Jansen; Hans Joenje; Eliane Gluckman; Christopher G Mathew
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.
Blood 2000;96(13):4064-70.
2000: Ilja Demuth; M Wlodarski; Alex J Tipping; Neil V Morgan; Johan P de Winter; M Thiel; S Gräsl; Detlev Schindler; Alan D D'Andrea; Cigdem Altay; H Kayserili; Adriana Zatterale; Jürgen Kunze; Wolfram Ebell; Christopher G Mathew; Hans Joenje; Karl Sperling; Martin Digweed
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
European journal of human genetics : EJHG 2000;8(11):861-8.
2000: Johan P de Winter; France Léveillé; Carola G M van Berkel; Martin A Rooimans; Laura van der Weel; Jûrgen Steltenpool; Ilja Demuth; Neil V Morgan; Noa Alon; Lucine Bosnoyan-Collins; J Lightfoot; P A J Leegwater; Quinten Waisfisz; K Komatsu; Fré Arwert; Jan C Pronk; Christopher G Mathew; Martin Digweed; Manuel Buchwald; Hans Joenje
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
American journal of human genetics 2000;67(5):1306-8.
2000: Yanan Kuang; Irene Garcia-Higuera; A Moran; M Mondoux; Martin Digweed; Alan D D'Andrea
Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity.
Blood 2000;96(5):1625-32.
1999: Martin Digweed; A Reis; Karl Sperling
Nijmegen breakage syndrome: consequences of defective DNA double strand break repair.
BioEssays : news and reviews in molecular, cellular and developmental biology 1999;21(8):649-56.
1999: Martin Digweed
[Molecular basis of Fanconi's anemia].
Klinische Pädiatrie 1999;211(4):192-7.
1999: Quinten Waisfisz; Kathrin Saar; Neil V Morgan; Cigdem Altay; P A J Leegwater; Johan P de Winter; K Komatsu; G R Evans; Rolf-Dieter Wegner; A Reis; Hans Joenje; Fré Arwert; Christopher G Mathew; Jan C Pronk; Martin Digweed
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
American journal of human genetics 1999;64(5):1400-5.
1998: Johan P de Winter; Quinten Waisfisz; Martin A Rooimans; Carola G M van Berkel; Lucine Bosnoyan-Collins; Noa Alon; Madeleine Carreau; O Bender; Ilja Demuth; Detlev Schindler; Jan C Pronk; Fré Arwert; Holger Hoehn; Martin Digweed; Manuel Buchwald; Hans Joenje
The Fanconi anaemia group G gene FANCG is identical with XRCC9.
Nature genetics 1998;20(3):281-3.
1998: Ilja Demuth; Martin Digweed
Genomic organization of a potential human DNA-crosslink repair gene, KIAA0086.
Mutation research 1998;409(1):11-6.
1998: Kathrin Saar; Detlev Schindler; Rolf-Dieter Wegner; A Reis; Thomas F Wienker; Holger Hoehn; Hans Joenje; Karl Sperling; Martin Digweed
Localisation of a Fanconi anaemia gene to chromosome 9p.
European journal of human genetics : EJHG 1998;6(5):501-8.
1998: Raymonda Varon; C Vissinga; Matthias Platzer; Karen M Cerosaletti; Krystyna H Chrzanowska; Kathrin Saar; G Beckmann; Eva Seemanová; Paul Roy Cooper; Norma J Nowak; Markus Stumm; Corry M R Weemaes; Richard A Gatti; R K Wilson; Martin Digweed; A Rosenthal; Karl Sperling; Patrick Concannon; A Reis
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Cell 1998;93(3):467-76.
1998: Tetsuya Otsuki; Jin Wang; Ilja Demuth; Martin Digweed; Johnson Ming-Yu Liu
Assessment of mitomycin C sensitivity in Fanconi anemia complementation group C gene (Fac) knock-out mouse cells.
International journal of hematology 1998;67(3):243-8.
1998: Heidemarie Neitzel; Vera Kalscheuer; S Henschel; Martin Digweed; Karl Sperling
Beta-heterochromatin in mammals: evidence from studies in Microtus agrestis based on the extensive accumulation of L1 and non-L1 retroposons in the heterochromatin.
Cytogenetics and cell genetics 1998;80(1-4):165-72.
1996: J R Lo ten Foe; M T Barel; P Thuss; Martin Digweed; Fré Arwert; Hans Joenje
Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.
Human genetics 1996;98(5):522-3.
1996: Martin Digweed; Karl Sperling
Molecular analysis of Fanconi anaemia.
BioEssays : news and reviews in molecular, cellular and developmental biology 1996;18(7):579-85.
1996: O Bender; Nigel Jones; Karl Sperling; Martin Digweed
Identification of a HeLa mRNA fraction which corrects the mitomycin C sensitivity of irs1 cells.
Mutation research 1996;363(1):9-14.
1995: Martin Digweed; U Günthert; R Schneider; H Seyschab; R Friedl; Karl Sperling
Irreversible repression of DNA synthesis in Fanconi anemia cells is alleviated by the product of a novel cyclin-related gene.
Molecular and cellular biology 1995;15(1):305-14.
1994: André Reis; Hans Christian Hennies; L Langbein; Martin Digweed; Dietmar Mischke; Matthias Drechsler; E Schröck; Brigitte Royer-Pokora; Werner W Franke; Karl Sperling
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
Nature genetics 1994;6(2):174-9.
1993: Martin Digweed
Human genetic instability syndromes: single gene defects with increased risk of cancer.
Toxicology letters 1993;67(1-3):259-81.
1991: Heidemarie Neitzel; Martin Digweed; Peter Nürnberg; A Pöpperl; C A Schmidt; Sigrid Tinschert; Karl Sperling
Routine applications of DNA fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5.
Clinical genetics 1991;39(2):97-103.
1989: Martin Digweed; U Günthert
Recombinant selection by microinjection: a simple cDNA cloning procedure for production of exclusively sense RNA transcripts.
Gene 1989;83(1):147-52.
1989: Martin Digweed; Karl Sperling
Identification of a HeLa mRNA fraction which can correct the DNA-repair defect in Fanconi anaemia fibroblasts.
Mutation research 1989;218(3):171-7.
1988: W Nietfeld; Martin Digweed; H Mentzel; W Meyerhof; Manfred Köster; Walter Knöchel; V A Erdmann; Tomas Pieler
Oocyte and somatic 5S ribosomal RNA and 5S RNA encoding genes in Xenopus tropicalis.
Nucleic acids research 1988;16(18):8803-15.
1988: Martin Digweed; S Zakrzewski-Lüdcke; Karl Sperling
Fanconi's anaemia: correlation of genetic complementation group with psoralen/UVA response.
Human genetics 1988;78(1):51-4.
1987: Volker A Erdmann; J Wolters; Tomas Pieler; Martin Digweed; T Specht; N Ulbrich
Evolution of organisms and organelles as studied by comparative computer and biochemical analyses of ribosomal 5S RNA structure.
Annals of the New York Academy of Sciences 1987;503():103-24.
1986: Martin Digweed; Tomas Pieler; D Kluwe; L Schuster; R Walker; V A Erdmann
Improved procedure for the isolation of a double-strand-specific ribonuclease and its application to structural analysis of various 5S rRNAs and tRNAs.
European journal of biochemistry / FEBS 1986;154(1):31-9.
1985: Tomas Pieler; Martin Digweed; Volker A Erdmann
RNA structural dynamics: pre-melting and melting transitions in E. coli 5S rRNA.
Journal of biomolecular structure & dynamics 1985;3(3):495-514.
1984: N Ulbrich; Martin Digweed; V A Erdmann
The nucleotide sequence of the cytoplasmic 5S rRNA from the horsetail, Equisetum arvense.
Nucleic acids research 1984;12(3):1577-80.
1983: Volker A Erdmann; Martin Digweed; Tomas Pieler
Dynamics of ribosomal RNA structure.
Journal of biomolecular structure & dynamics 1983;1(3):657-67.
1983: Tomas Pieler; Martin Digweed; M Bartsch; Volker A Erdmann
Comparative structural analysis of cytoplasmic and chloroplastic 5S rRNA from spinach.
Nucleic acids research 1983;11(3):591-604.
1982: Tomas Pieler; V A Erdmann; Martin Digweed; N Delihas
Size heterogeneity in Spinacia oleracea (spinach) chloroplast 5S ribosomal RNA.
Nucleic acids research 1982;10(21):6579-80.
1982: Martin Digweed; I Kumagai; Tomas Pieler; V A Erdmann
The effect of a cytidine-to-uridine transition on the stability of Escherichia coli A19 5-S RNA.
European journal of biochemistry / FEBS 1982;127(3):531-7.