Ask about this productRelated genes to: NTHL1 antibody
- Gene:
- NTHL1 NIH gene
- Name:
- nth like DNA glycosylase 1
- Previous symbol:
- -
- Synonyms:
- NTH1, OCTS3
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-05-27
- Date modifiied:
- 2019-04-23
Related products to: NTHL1 antibody
Related articles to: NTHL1 antibody
- - Source: PubMed
Publication date: 2026/04/21
Kim HyeoncheolCazaubiel JulesChiang Tung-LinStylianakis DimitriosFitzgerald SamanthaDe Silva PushpamaliGurjao CarinoGiannakis Marios - Endometrial cancer (EC) is a gynecologic neoplasm with a constantly increasing incidence, especially in high-income countries. Obesity, diabetes, old age, and genetic predisposition account for the main risk factors. Genetic knowledge has steadily increased from the historical clinicopathological classification into two pathogenic types to the molecular subdivision into four groups, highlighting that EC is not a single entity, but rather the sum of different molecular diseases with different prognoses. About 5%-10% of ECs show a hereditary basis attributable to germline pathogenic variants (PVs) in different susceptibility genes, including (, , , and ), , , , , , , which confer an increased risk of developing an early onset EC. Lynch syndrome is the main inherited disorder predisposing to EC, followed by other hereditary conditions, including Cowden syndrome, polymerase proof-reading associated polyposis, -associated syndrome, hereditary breast and ovarian cancer syndrome, -associated polyposis, and Peutz-Jeghers syndrome. Genetics has been shown to affect several aspects of disease, including carcinogenesis, onset age, clinicopathological features, prognosis, and therapy response. In this review, we will investigate the impact of germline PVs in different genes on genetic susceptibility to the development of inherited EC, discussing the potential cancer risk in mutation carriers as well as prognostic implications and current therapeutic approaches, also evaluating the possibility of carrying out a more extensive routine genetic analysis for EC women, in order to increase the diagnostic power, improve prevention and surveillance strategies in genetically predisposed subjects, and implement tailored therapies. - Source: PubMed
Publication date: 2026/03/19
Fanale DanieleMagrin LuigiCorsini Lidia RitaPedone ErikaBrando ChiaraBazan Russo Tancredi DidierFerraro PietroCarobene KarenCipolla Elga AdrianaColletta GiovanniPuglisi MattiaGalvano AntonioVieni SalvatorePantuso GianniGiannone Antonino GiulioBadalamenti GiuseppeIncorvaia LorenaRusso AntonioBazan Viviana - Bifunctional DNA glycosylases, which initiate the base excision repair (BER) of oxidized bases, act by first excising the base and then incising the DNA backbone. In vitro, these enzymes are often rate-limited by their apurinic/apyrimidinic (AP)-lyase activity; however, the significance of this step in cells has remained unclear, because AP-endonuclease 1 (APE1) can efficiently bypass this step. To analyze the importance of the AP-lyase activity of NTHL1, we rationally designed and characterized a monofunctional-like NTHL1 mutant with glycosylase activity but profoundly impaired AP-lyase activity using complementary biochemical and microscopy-based assays. Mechanistically, we demonstrated that the monofunctional-like NTHL1 mutant generates abasic sites (AP sites) but, despite lacking effective AP-lyase activity, remains AP site bound. This creates competition with APE1 for engagement of AP sites. Moreover, cells expressing the monofunctional-like NTHL1 mutant accumulated more AP sites, retained higher levels of XRCC1 foci and displayed heightened sensitivity to acute oxidative stress. Live-cell assays further revealed increased NTHL1 accumulation at laser-induced DNA damage sites and increased chromatin bound immobility during oxidative stress, with mobility restored after a repair period. In contrast, a catalytically inactive NTHL1 mutant was recruited less strongly but remained chromatin-bound for a longer time. Thus, in contrast to the monofunctional-like NTHL1 mutant, the bifunctional NTHL1 limits BER intermediate retention and enables timely hand-off to downstream enzyme APE1. Ultimately, disrupting the AP-lyase ability of NTHL1 disrupts BER pathway flux and affects chromatin engagement during oxidative stress. - Source: PubMed
Publication date: 2026/02/27
Haslam JamesRudolfova NatalieZhou KaixinHoman EvertJemth Ann-SofieMichel MauriceHelleday ThomasMortusewicz Oliver - Age and sex are known to influence outcomes in neuroendocrine neoplasms (NENs), yet their molecular determinants remain poorly defined. We queried a real-world dataset of gastrointestinal (GI) tract and pancreatic (P) NENs and characterized their clinical, molecular, and immune profiles. - Source: PubMed
Li ShuningLiu LisaGandhi NishantFarrell AlexLou EmilSoares HeloisaNazha BasselSwensen JeffreyOberley MatthewEvans Mark GKunz PamelaVijayvergia Namrata - Prostate adenocarcinoma (PRAD) is a common malignancy in the male genitourinary system, with growing evidence linking its progression to mitochondrial function and macrophage polarization. This study identifies prognostic genes associated with these factors in PRAD through integrated transcriptomic data analysis and Mendelian randomization (MR). - Source: PubMed
Publication date: 2025/12/31
Heng LiBian HaoZhao ChengjunWei ZhenCao JianchengWang Guanfeng