Clinical:
Ciaccio C et al. Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23). Cerebellum. 2019; 18(5):972-975. PMID: 31410782.
Errichiello E et al. Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23). J Hum Genet. 2020; 65(12):1135-1141. PMID: 32651480.
Gómez-Herreros F et al. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nat Genet. 2014; 46(5):516-21. PMID: 24658003.
Zagnoli-Vieira G et al. Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23). Neurol Genet. 2018;4(4):e262. PMID: 30109272.
Zoghi S et al. A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature. Eur J Med Genet. 2021;64(12):104348. PMID: 34606976.
Selected Molecular:
Schellenberg MJ et al. Ubiquitin stimulated reversal of topoisomerase 2 DNA-protein crosslinks by TDP2. Nucleic Acids Res. 2020; 48(11):6310-6325. doi: 10.1093/nar/gkaa318. PMID: 32356875; PMCID: PMC7293035.
Álvarez-Quilón A et al. Endogenous topoisomerase II- mediated DNA breaks drive thymic cancer predisposition linked to ATM deficiency. Nat Commun. 2020; 11(1):910 PMID: 32060399.
Gómez-Herreros F et al. TDP2 suppresses chromosomal translocations induced by DNA topoisomerase II during gene transcription. Nat Commun. 2017; 8(1):233. PMID: 28794467.
Schellenberg MJ et al. Reversal of DNA damage induced Topoisomerase 2 DNA-protein crosslinks by Tdp2. Nucleic Acids Res. 2016; 44(8):3829-44. PMID: 27060144
Gómez-Herreros F et al. TDP2-dependent non-homologous end-joining protects against topoisomerase II- induced DNA breaks and genome instability in cells and in vivo. PLoS Genet. 2013; 9(3):e1003226. PMID: 2350537.
Shi K et al. Structural basis for recognition of 5'-phosphotyrosine adducts by Tdp2. Nat Struct Mol Biol. 2012; 19(12):1372-7. PMID: 23104058.
Schellenberg MJ et al. Mechanism of repair of 5'-topoisomerase II-DNA adducts by mammalian tyrosyl- DNA phosphodiesterase 2. Nat Struct Mol Biol. 2012;19(12):1363-71. PMID: 23104055.
Gao R et al. Biochemical characterization of human tyrosyl-DNA phosphodiesterase 2 (TDP2/TTRAP): a Mg(2+)/Mn(2+)-dependent phosphodiesterase specific for the repair of topoisomerase cleavage complexes. J Biol Chem. 2012; 287(36):30842-52. PMID: 22822062.
Zeng Z et al. TDP2 promotes repair of topoisomerase I-mediated DNA damage in the absence of TDP1. Nucleic Acids Res. 2012;40(17):8371-80. PMID: 22740648.
Zeng Z et al. TDP2/TTRAP is the major 5'-tyrosyl DNA phosphodiesterase activity in vertebrate cells and is critical for cellular resistance to topoisomerase II-induced DNA damage. J Biol Chem. 2011;286(1):403-9. PMID: 21030584.
Cortes Ledesma F et al. A human 5'-tyrosyl DNA phosphodiesterase that repairs topoisomerase-mediated DNA damage. Nature. 2009;461(7264):674-8. PMID: 19794497.
Selected Reviews:
Zagnoli-Vieira G et al. Untangling trapped topoisomerases with tyrosyl-DNA phosphodiesterases. DNA Repair (Amst). 2020; 94:102900. PMID: 32653827.
Sun Y et al. Excision repair of topoisomerase DNA-protein crosslinks (TOP-DPC). DNA Repair (Amst). 2020; 89:102837. PMID: 32200233.
Riccio AA et al. Molecular mechanisms of topoisomerase 2 DNA-protein crosslink resolution. Cell Mol Life Sci. 2020; 77(1):81-91. PMID: 31728578.
Kawale AS et al. Tyrosyl-DNA phosphodiesterases: rescuing the genome from the risks of relaxation. Nucleic Acids Res. 2018; 46(2):520-537. PMID: 29216365.
Pommier Y et al. Tyrosyl-DNA- phosphodiesterases (TDP1 and TDP2). DNA Repair (Amst). 2014; 19:114-29. PMID: 24856239.
Nitiss JL et al. Tdp2: a means to fixing the ends. PLoS Genet. 2013; 9(3):e1003370. PMID: 23505391.
Caldecott KW. Tyrosyl DNA phosphodiesterase 2, an enzyme fit for purpose. Nat Struct Mol Biol. 2012;19(12):1212-3. PMID: 23211766.
TDP2