ArticleNeurology. Genetics2018
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).
Erratum issuedOpen access · goldAbstract read
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Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 25 papers.
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25citing papers in PubMed
1.9field-weighted citation impact, top 13% of its field
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25 citing papers in PubMed, 38 citations in OpenAlex.
- How Early Should I Refer My Patient? The Benefits of a Quick Ophthalmic Referral in Spinocerebellar Ataxias, a Case Series and Literature Review.Brain sciences · 2026Article
- Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.Genome medicine · 2025Article
- Review
- From the TOP: Formation, recognition and resolution of topoisomerase DNA protein crosslinks.DNA repair · 2024Review
- Genome Instability Induced by Topoisomerase Misfunction.International journal of molecular sciences · 2024Review
- A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Tyrosyl-DNA phosphodiesterase 2 (Tdp2) repairs DNA-protein crosslinks and protects against double strand breaksFrontiers in cell and developmental biology · 2024Article
- Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.Human genetics · 2023Article
- Review
- The threat of programmed DNA damage to neuronal genome integrity and plasticity.Nature genetics · 2022Review
- High Temperature Drives Topoisomerase Mediated Chromosomal Break Repair Pathway Choice.Cancers · 2021Article
- Next-Generation Sequencing Technologies and Neurogenetic Diseases.Life (Basel, Switzerland) · 2021Review
- Topoisomerase-Mediated DNA Damage in Neurological Disorders.Frontiers in aging neuroscience · 2021Review
- Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).Journal of human genetics · 2020Article
- Debulking of topoisomerase DNA-protein crosslinks (TOP-DPC) by the proteasome, non-proteasomal and non-proteolytic pathways.DNA repair · 2020Review
- Ubiquitin stimulated reversal of topoisomerase 2 DNA-protein crosslinks by TDP2.Nucleic acids research · 2020Article
- Excision repair of topoisomerase DNA-protein crosslinks (TOP-DPC).DNA repair · 2020Review
- Molecular mechanisms of topoisomerase 2 DNA-protein crosslink resolution.Cellular and molecular life sciences : CMLS · 2020Review
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
Corrections and comments
- Erratum issuedErratum: Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).2018 · Taylor, Robert [corrected to Taylor, Robert W]
Authors and funding
9 authors at 3 institutions in 2 countries.
Guido Zagnoli-VieiraGenome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.
Francesco BruniGenome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.
Kyle ThompsonGenome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.
Langping HeGenome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.
Sarah WalkerGenome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.
Arjan P M de BrouwerGenome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.
Robert W TaylorGenome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.
Dmitriy NiyazovGenome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.
Keith W CaldecottGenome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.
Radboud University Medical Center · NLRadboud University Nijmegen · NLUniversity of Sussex · GB
Funding
Cancer Research UK 16771European Research Council 694996Medical Research Council MR/P010121/1
Abstract
Objective: To address the relationship between mutations in the DNA strand break repair protein tyrosyl DNA phosphodiesterase 2 (TDP2) and spinocerebellar ataxia autosomal recessive 23 (SCAR23) and to characterize the cellular phenotype of primary fibroblasts from this disease. Methods: We have used exome sequencing, Sanger sequencing, gene editing and cell biology, biochemistry, and subcellular mitochondrial analyses for this study. Results: We have identified a patient in the United States with SCAR23 harboring the same homozygous Conclusions: These data confirm the
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