Associated Papers
H263A and SCAN1/H493R mutant TDP1 block TOP1-induced double-strand break repair during gene transcription in quiescent cells and promote cell death.
Rubio-Contreras D et al.
Cell Death & Disease, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review.
Mohammadi M et al.
Pediatric Neurology, 2025
Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1).
Ahmad R et al.
Molecular Biology Reports, 2024
TDP1 phosphorylation by CDK1 in mitosis promotes MUS81-dependent repair of trapped Top1-DNA covalent complexes.
Paul Chowdhuri S et al.
The Embo Journal, 2024
TDP1 mutation causing SCAN1 neurodegenerative syndrome hampers the repair of transcriptional DNA double-strand breaks.
Geraud M et al.
Cell Reports, 2024
Clinical genetics of Charcot-Marie-Tooth disease.
Higuchi Y et al.
Journal of Human Genetics, 2023
Mitochondrial DNA replication and repair defects: Clinical phenotypes and therapeutic interventions.
Roy A et al.
Biochimica Et Biophysica Acta. Bioenergetics, 2022
Polymerases and DNA Repair in Neurons: Implications in Neuronal Survival and Neurodegenerative Diseases.
Li X et al.
Frontiers in Cellular Neuroscience, 2022
Tdp1 protects from topoisomerase 1-mediated chromosomal breaks in adult zebrafish but is dispensable during larval development.
Zaksauskaite R et al.
Science Advances, 2021
Topoisomerase-Mediated DNA Damage in Neurological Disorders.
Crewe M et al.
Frontiers in Aging Neuroscience, 2021
Identification of novel inhibitors for the tyrosyl-DNA-phosphodiesterase 1 (Tdp1) mutant SCAN1 using virtual screening.
Mamontova EM et al.
Bioorganic & Medicinal Chemistry, 2020
Human Tyrosyl-DNA Phosphodiesterase 1 Possesses Transphosphooligonucleotidation Activity With Primary Alcohols.
Dyrkheeva N et al.
Frontiers in Cell and Developmental Biology, 2020
SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy.
Ghosh A et al.
Science Advances, 2019
Spinocerebellar ataxia with axonal neuropathy type 1 revisited.
Scott P et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2019
DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging.
Tiwari V et al.
American Journal of Human Genetics, 2019
Mammalian Tyrosyl-DNA Phosphodiesterases in the Context of Mitochondrial DNA Repair.
Huang SN et al.
International Journal of Molecular Sciences, 2019
Targeting Tyrosyl-DNA phosphodiesterase I to enhance toxicity of phosphodiester linked DNA-adducts.
Brettrager EJ et al.
Cancer Drug Resistance (alhambra, Calif.), 2019
Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria.
Fam HK et al.
Scientific Reports, 2018
TDP1 is required for efficient non-homologous end joining in human cells.
Li J et al.
Dna Repair, 2017
Neurological disorders associated with DNA strand-break processing enzymes.
Jiang B et al.
Mechanisms of Ageing and Development, 2017
Chronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?
Wang H et al.
Mechanisms of Ageing and Development, 2017
Dysregulated human Tyrosyl-DNA phosphodiesterase I acts as cellular toxin.
Cuya SM et al.
Oncotarget, 2016
TDP1 promotes assembly of non-homologous end joining protein complexes on DNA.
Heo J et al.
Dna Repair, 2015
Tyrosyl-DNA phosphodiesterase I catalytic mutants reveal an alternative nucleophile that can catalyze substrate cleavage.
Comeaux EQ et al.
The Journal of Biological Chemistry, 2015
Recognition and repair of chemically heterogeneous structures at DNA ends.
Andres SN et al.
Environmental and Molecular Mutagenesis, 2015
Biochemical assays for the discovery of TDP1 inhibitors.
Marchand C et al.
Molecular Cancer Therapeutics, 2014
Association of tyrosyl-DNA phosphodiesterase 1 polymorphism with Tourette syndrome in Taiwanese patients.
Wu BT et al.
Journal of Clinical Laboratory Analysis, 2013
A single strand that links multiple neuropathologies in human disease.
Reynolds JJ et al.
Brain : a Journal of Neurology, 2013
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.
Wolf NI et al.
Handbook of Clinical Neurology, 2013
ATM deficiency results in accumulation of DNA-topoisomerase I covalent intermediates in neural cells.
Alagoz M et al.
Plos One, 2013
Diseases associated with defective responses to DNA damage.
O'Driscoll M
Cold Spring Harbor Perspectives in Biology, 2012
Structure-function studies of a plant tyrosyl-DNA phosphodiesterase provide novel insights into DNA repair mechanisms of Arabidopsis thaliana.
Kim H et al.
The Biochemical Journal, 2012
Analysis of the active-site mechanism of tyrosyl-DNA phosphodiesterase I: a member of the phospholipase D superfamily.
Gajewski S et al.
Journal of Molecular Biology, 2012
Autosomal recessive cerebellar ataxias: the current state of affairs.
Vermeer S et al.
Journal of Medical Genetics, 2011
CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.
Kerzendorfer C et al.
Mechanisms of Ageing and Development, 2011
DNA repair deficiency in neurodegeneration.
Jeppesen DK et al.
Progress in Neurobiology, 2011
Variation in base excision repair capacity.
Wilson DM et al.
Mutation Research, 2011
To live or to die: a matter of processing damaged DNA termini in neurons.
El-Khamisy SF
Embo Molecular Medicine, 2011
Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.
Kerzendorfer C et al.
Human Molecular Genetics, 2010
TDP1 serine 81 promotes interaction with DNA ligase IIIalpha and facilitates cell survival following DNA damage.
Chiang SC et al.
Cell Cycle (georgetown, Tex.), 2010
Spinocerebellar ataxia with axonal neuropathy.
Walton C et al.
Advances in Experimental Medicine and Biology, 2010
4-Pregnen-21-ol-3,20-dione-21-(4-bromobenzenesulfonate) (NSC 88915) and related novel steroid derivatives as tyrosyl-DNA phosphodiesterase (Tdp1) inhibitors.
Dexheimer TS et al.
Journal of Medicinal Chemistry, 2009
In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation.
Hawkins AJ et al.
Dna Repair, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Identification of phosphotyrosine mimetic inhibitors of human tyrosyl-DNA phosphodiesterase I by a novel AlphaScreen high-throughput assay.
Marchand C et al.
Molecular Cancer Therapeutics, 2009