Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
暂无分享,去创建一个
G. Molenaers | H. Van Esch | K. Caldecott | W. Huybrechts | K. Van Den Bogaert | Guido Zagnoli-Vieira | J. Brazina
[1] E. Noguchi,et al. Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair , 2022, Human Genetics.
[2] N. Willis,et al. The structure-specific endonuclease complex SLX4–XPF regulates Tus–Ter-induced homologous recombination , 2021, Nature Structural & Molecular Biology.
[3] Hossein Jafari Khamirani,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. , 2021, European journal of medical genetics.
[4] L. Garavelli,et al. Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23) , 2020, Journal of Human Genetics.
[5] C. Romano,et al. Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) , 2019, The Cerebellum.
[6] A. Bradley,et al. ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks , 2019, Nature Communications.
[7] Robert W. Taylor,et al. Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23) , 2018, Neurology: Genetics.
[8] Fengtang Yang,et al. ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks , 2018, bioRxiv.
[9] Ioanna Ntai,et al. TDP2 suppresses chromosomal translocations induced by DNA topoisomerase II during gene transcription , 2017, Nature Communications.
[10] L. Perera,et al. Reversal of DNA damage induced Topoisomerase 2 DNA–protein crosslinks by Tdp2 , 2016, Nucleic acids research.
[11] J. Schuurs-Hoeijmakers,et al. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function , 2014, Nature Genetics.
[12] K. Caldecott,et al. Generation of assays and antibodies to facilitate the study of human 5'-tyrosyl DNA phosphodiesterase. , 2013, Analytical biochemistry.
[13] D. Huylebroeck,et al. TDP2–Dependent Non-Homologous End-Joining Protects against Topoisomerase II–Induced DNA Breaks and Genome Instability in Cells and In Vivo , 2013, PLoS genetics.
[14] K. Caldecott. Tyrosyl DNA phosphodiesterase 2, an enzyme fit for purpose , 2012, Nature Structural &Molecular Biology.
[15] D. Ramsden,et al. Mechanism of 5′ Topoisomerase II DNA adduct repair by mammalian Tyrosyl DNA phosphodiesterase 2 (Tdp2) , 2012, Nature Structural &Molecular Biology.
[16] J. Dahm-Daphi,et al. FANCD2 but not FANCA promotes cellular resistance to type II topoisomerase poisons. , 2011, Cancer letters.
[17] Z. Zeng,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 , 2010, The Journal of Biological Chemistry.
[18] K. Caldecott,et al. A human 5′-tyrosyl DNA phosphodiesterase that repairs topoisomerase-mediated DNA damage , 2009, Nature.
[19] B. Novák,et al. Supplementary Fig. 1 , 2021 .
[20] Robert W. Taylor,et al. Con fi rming TDP 2 mutation in spinocerebellar ataxia autosomal recessive 23 ( SCAR 23 ) , 2019 .
[21] Yves,et al. Structural basis for recognition of 5 ′-phosphotyrosine adducts by TDP 2 , 2013 .