Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response

Danique Beijer; Thomas Agnew; Johannes Gregor Matthias Rack; Evgeniia Prokhorova; Tine Deconinck; Berten Ceulemans; Stojan Peric; Vedrana Milic Rasic; Peter De Jonghe; Ivan Ahel; Jonathan Baets

doi:10.26508/lsa.202101057

Research Article

Open Access

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response

View ORCID ProfileDanique Beijer, Thomas Agnew, View ORCID ProfileJohannes Gregor Matthias Rack, View ORCID ProfileEvgeniia Prokhorova, Tine Deconinck, Berten Ceulemans, Stojan Peric, Vedrana Milic Rasic, Peter De Jonghe, View ORCID ProfileIvan Ahel Correspondence email, View ORCID ProfileJonathan Baets Correspondence email

Danique Beijer

1Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium

2Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

Roles: Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing—original draft, review, and editing

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ORCID record for Danique Beijer

Thomas Agnew

3Sir William Dunn School of Pathology, Oxford University, Oxford, UK

Roles: Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing—original draft, review, and editing

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Johannes Gregor Matthias Rack

3Sir William Dunn School of Pathology, Oxford University, Oxford, UK

Roles: Data curation, Formal analysis, Investigation, Methodology

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ORCID record for Johannes Gregor Matthias Rack

Evgeniia Prokhorova

3Sir William Dunn School of Pathology, Oxford University, Oxford, UK

Roles: Investigation, Methodology

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ORCID record for Evgeniia Prokhorova

Tine Deconinck

1Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium

2Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

Roles: Investigation, Methodology

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Berten Ceulemans

4Department of Pediatric Neurology, Antwerp University Hospital, Antwerp, Belgium

Roles: Data curation, Formal analysis

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Stojan Peric

5Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia

Roles: Data curation, Formal analysis

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Vedrana Milic Rasic

6Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, Serbia

Roles: Data curation, Formal analysis

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Peter De Jonghe

1Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium

2Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

7Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium

Roles: Data curation, Formal analysis, Supervision, Funding acquisition

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Ivan Ahel

3Sir William Dunn School of Pathology, Oxford University, Oxford, UK

Roles: Conceptualization, Formal analysis, Supervision, Funding acquisition, Methodology, Writing—original draft, review, and editing

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ORCID record for Ivan Ahel
For correspondence: ivan.ahel@path.ox.ac.uk

Jonathan Baets

1Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium

2Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

7Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium

Roles: Conceptualization, Supervision, Funding acquisition, Investigation, Methodology, Writing—original draft, review, and editing

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ORCID record for Jonathan Baets
For correspondence: Jonathan.Baets@uantwerpen.be

Published 3 September 2021. DOI: 10.26508/lsa.202101057

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ADPRHL2 mutations affect DNA damage response

Danique Beijer, Thomas Agnew, Johannes Gregor Matthias Rack, Evgeniia Prokhorova, Tine Deconinck, Berten Ceulemans, Stojan Peric, Vedrana Milic Rasic, Peter De Jonghe, Ivan Ahel, Jonathan Baets

Life Science Alliance Sep 2021, 4 (11) e202101057; DOI: 10.26508/lsa.202101057

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ADPRHL2 mutations affect DNA damage response

Danique Beijer, Thomas Agnew, Johannes Gregor Matthias Rack, Evgeniia Prokhorova, Tine Deconinck, Berten Ceulemans, Stojan Peric, Vedrana Milic Rasic, Peter De Jonghe, Ivan Ahel, Jonathan Baets

Life Science Alliance Sep 2021, 4 (11) e202101057; DOI: 10.26508/lsa.202101057

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