| Enhanced Sampling for Conformational Changes and Molecular Mechanisms of Human NTHL1. | Enhanced Sampling for Conformational Changes and Molecular Mechanisms of Human NTHL1.
Odstrcil RE, Dutta P, Liu J., Free PMC Article | 03/22/2024 |
| NTHL1 is a recessive cancer susceptibility gene. | NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK, Pelttari LM, Kiiski JI, Khan S, Nurmikolu M, Suvanto M, Aho N, Tasmuth T, Kalso E, Schleutker J, Kallioniemi A, Heikkilä P, FinnGen, Aittomäki K, Blomqvist C, Nevanlinna H., Free PMC Article | 12/6/2023 |
| Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers. | Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers.
Meguro S, Koguchi T, Hakozaki Y, Onagi A, Matsuoka K, Hoshi S, Hata J, Sato Y, Akaihata H, Kataoka M, Ogawa S, Kojima Y., Free PMC Article | 01/11/2023 |
| Human endonuclease III/NTH1: focusing on the [4Fe-4S] cluster and the N-terminal domain. | Human endonuclease III/NTH1: focusing on the [4Fe-4S] cluster and the N-terminal domain.
Moe E, Silveira CM, Zuccarello L, Rollo F, Stelter M, De Bonis S, Kulka-Peschke C, Katz S, Hildebrandt P, Zebger I, Timmins J, Todorovic S. | 11/19/2022 |
| Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population. | Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.
Salo-Mullen EE, Maio A, Mukherjee S, Bandlamudi C, Shia J, Kemel Y, Cadoo KA, Liu Y, Carlo M, Ranganathan M, Kane S, Srinivasan P, Chavan SS, Donoghue MTA, Bourque C, Sheehan M, Tejada PR, Patel Z, Arnold AG, Kennedy JA, Amoroso K, Breen K, Catchings A, Sacca R, Marcell V, Markowitz AJ, Latham A, Walsh M, Misyura M, Ceyhan-Birsoy O, Solit DB, Berger MF, Robson ME, Taylor BS, Offit K, Mandelker D, Stadler ZK., Free PMC Article | 03/26/2022 |
| Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium. | Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S. | 02/5/2022 |
| Caught in motion: human NTHL1 undergoes interdomain rearrangement necessary for catalysis. | Caught in motion: human NTHL1 undergoes interdomain rearrangement necessary for catalysis.
Carroll BL, Zahn KE, Hanley JP, Wallace SS, Dragon JA, Doublié S., Free PMC Article | 01/15/2022 |
| Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition. | Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition.
Kumpula T, Tervasmäki A, Mantere T, Koivuluoma S, Huilaja L, Tasanen K, Winqvist R, de Voer RM, Pylkäs K., Free PMC Article | 06/12/2021 |
| Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer. | Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer.
Elsayed FA, Grolleman JE, Ragunathan A, NTHL1 study group, Buchanan DD, van Wezel T, de Voer RM., Free PMC Article | 04/17/2021 |
| NTHL1 in genomic integrity, aging and cancer. | NTHL1 in genomic integrity, aging and cancer.
Das L, Quintana VG, Sweasy JB., Free PMC Article | 03/28/2021 |
| An Excimer Clamp for Measuring Damaged-Base Excision by the DNA Repair Enzyme NTH1. | An Excimer Clamp for Measuring Damaged-Base Excision by the DNA Repair Enzyme NTH1.
Jun YW, Wilson DL, Kietrys AM, Lotsof ER, Conlon SG, David SS, Kool ET., Free PMC Article | 03/27/2021 |
| NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. | NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.
Belhadj S, Quintana I, Mur P, Munoz-Torres PM, Alonso MH, Navarro M, Terradas M, Piñol V, Brunet J, Moreno V, Lázaro C, Capellá G, Valle L., Free PMC Article | 10/31/2020 |
| The results suggest that the NTHL1 variants Q90X, Y130X, R153X, and Q287X, but not R19Q, V179I, V217F, or G286S, were defective in 5OHU repair and the alleles encoding them were considered to be pathogenic for NTHL1-associated polyposis. | Defective repair capacity of variant proteins of the DNA glycosylase NTHL1 for 5-hydroxyuracil, an oxidation product of cytosine.
Shinmura K, Kato H, Kawanishi Y, Goto M, Tao H, Yoshimura K, Nakamura S, Misawa K, Sugimura H. | 12/21/2019 |
| NTHL1 is a multi-tumor predisposition gene with a high lifetime risk for extracolonic cancers and a typical mutational signature observed across tumor types, which can assist in the recognition of this syndrome. | Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP. | 12/7/2019 |
| he lyase activity of hNTHL1, and the 3' diesterase activity of APE1, which had been seen as relatively dispensable, may have been preserved during evolution to enhance base excision repair (BER) in chromatin | The lyase activity of bifunctional DNA glycosylases and the 3'-diesterase activity of APE1 contribute to the repair of oxidized bases in nucleosomes.
Maher RL, Wallace SS, Pederson DS., Free PMC Article | 10/12/2019 |
| This paper demonstrates that cellular NTH1 protein is induced in response to oxidative stress following hydrogen peroxide treatment of cells and that accumulation of NTH1 on chromatin is exacerbated in the absence of TRIM26. | NTH1 Is a New Target for Ubiquitylation-Dependent Regulation by TRIM26 Required for the Cellular Response to Oxidative Stress.
Williams SC, Parsons JL., Free PMC Article | 06/22/2019 |
| The processing of the lesions was evaluated by purified enzyme cocktails of hNTH1 and hOGG1 as well as with a HeLa cell extract. Interestingly, the yield of double-strand breaks (DSBs) resulting from the processing of the bistranded lesions are appreciably lower when the DNA is treated with the HeLa cell extract compared with the relevant purified enzyme cocktail in both models | Complex interplay of lesion-specific DNA repair enzyme on bistranded clustered DNA damage harboring Tg:G mismatch in nucleosome core particles.
Kumari B, Sinha KK, DAS P. | 12/22/2018 |
| NTHL1 in these extracts was able to excise thymine glycol from both naked DNA and sites in nucleosomes that earlier studies had shown to be sterically accessible. However, the same extracts were able to excise lesions from sterically-occluded sites in nucleosomes only after the addition of Mg2+/ATP. | Human cells contain a factor that facilitates the DNA glycosylase-mediated excision of oxidized bases from occluded sites in nucleosomes.
Maher RL, Marsden CG, Averill AM, Wallace SS, Sweasy JB, Pederson DS., Free PMC Article | 12/30/2017 |
| Data indicate that DNA glycosylases MYH, UNG2, MPG, NTH1, NEIL1, 2 and 3 on nascent DNA. | Monitoring of the spatial and temporal dynamics of BER/SSBR pathway proteins, including MYH, UNG2, MPG, NTH1 and NEIL1-3, during DNA replication.
Bj Rås KØ, Sousa MML, Sharma A, Fonseca DM, S Gaard CK, Bj Rås M, Otterlei M., Free PMC Article | 10/28/2017 |
| WT NTHL1 (human) and Nth (E. coli) are remarkably alike with respect to specificity of glycosylase reaction, and although NTHL1 is a much slower enzyme than Nth, the tighter binding of NTHL1 compensates, resulting in similar kcat/Kd values for both enzymes with each of the substrates tested. For NTHL1 Gln287Ala, specificity for substrates positioned opposite G is lost, but not that of substrates positioned opposite A. | Probing the activity of NTHL1 orthologs by targeting conserved amino acid residues.
Robey-Bond SM, Benson MA, Barrantes-Reynolds R, Bond JP, Wallace SS., Free PMC Article | 07/29/2017 |
| We therefore found published evidence to support the association between variants in NTHL1 and RPS20 with CRC. | Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.
Broderick P, Dobbins SE, Chubb D, Kinnersley B, Dunlop MG, Tomlinson I, Houlston RS., Free PMC Article | 06/24/2017 |
| Both Ntg1 and its human homologue, NTHL1, can be SUMO-modified in response to oxidative stress. | Identification of SUMO modification sites in the base excision repair protein, Ntg1.
Swartzlander DB, McPherson AJ, Powers HR, Limpose KL, Kuiper EG, Degtyareva NP, Corbett AH, Doetsch PW., Free PMC Article | 05/20/2017 |
| NTH1 polymorphisms may be associated with non-small cell lung cancer pathogenesis. | DNA Base-Excision Repair Genes OGG1 and NTH1 in Brazilian Lung Cancer Patients.
Couto PG, Bastos-Rodrigues L, Carneiro JG, Guieiro F, Bicalho MA, Leidenz FB, Bicalho AJ, Friedman E, De Marco L. | 09/10/2016 |
| This study extends the description of biallelic mutations in NTHL1 beyond the single c.268C-->T,p.Q90* mutation that was observed previously. | Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.
Rivera B, Castellsagué E, Bah I, van Kempen LC, Foulkes WD. | 11/21/2015 |
| A homozygous loss-of-function germline mutation in the NTHL1 gene predisposes to a new subtype of BER-associated adenomatous polyposis and colorectal cancer. | A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N. | 08/8/2015 |