Results 1 to 10 of about 1,008,734 (288)

RecQ dysfunction contributes to social and depressive-like behavior and affects aldolase activity in mice

open access: yesNeurobiology of Disease, 2023
RecQ helicase family proteins play vital roles in maintaining genome stability, including DNA replication, recombination, and DNA repair. In human cells, there are five RecQ helicases: RECQL1, Bloom syndrome (BLM), Werner syndrome (WRN), RECQL4, and ...
Yujun Hou   +7 more
doaj   +1 more source

GEN1 promotes common fragile site expression

open access: yesCell Reports, 2023
Summary: Our genomes harbor conserved DNA sequences, known as common fragile sites (CFSs), that are difficult to replicate and correspond to regions of genome instability.
Anaid Benitez   +6 more
doaj   +1 more source

Revisiting Two Decades of Research Focused on Targeting APE1 for Cancer Therapy: The Pros and Cons

open access: yesCells, 2023
APE1 is an essential endodeoxyribonuclease of the base excision repair pathway that maintains genome stability. It was identified as a pivotal factor favoring tumor progression and chemoresistance through the control of gene expression by a redox-based ...
Matilde Clarissa Malfatti   +3 more
doaj   +1 more source

NEIL3-mediated proteasomal degradation facilitates the repair of cisplatin-induced DNA damage in human cells

open access: yesScientific Reports, 2023
Anti-neoplastic effect of DNA cross-linking agents such as cisplatin, mitomycin C, and psoralen is attributed to their ability to induce DNA interstrand cross-links (ICLs), which block replication, transcription, and linear repair pathways by preventing ...
Umit Aliyaskarova   +6 more
doaj   +1 more source

Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function

open access: yesCommunications Biology, 2020
Reyes et al. identified and characterized dominant mutations in the MutL homolog MLH2 (in S. cerevisiae) and PMS1 (in humans) causing an increased mutator phenotype.
Gloria X. Reyes   +5 more
doaj   +1 more source

Nicotinamide adenine dinucleotide supplementation drives gut microbiota variation in Alzheimer’s mouse model

open access: yesFrontiers in Aging Neuroscience, 2022
Alzheimer’s disease (AD) is the most common neurodegenerative disease. Growing evidence suggests an important role for gut dysbiosis and gut microbiota-host interactions in aging and neurodegeneration.
Xixia Chu   +9 more
doaj   +1 more source

Mechanism of substrate hydrolysis by the human nucleotide pool sanitiser DNPH1

open access: yesNature Communications, 2023
Poly(ADP-ribose) polymerase (PARP) inhibitors are used in the clinic to treat BRCA-deficient breast, ovarian and prostate cancers. As their efficacy is potentiated by loss of the nucleotide salvage factor DNPH1 there is considerable interest in the ...
Neil J. Rzechorzek   +7 more
doaj   +1 more source

Personalized genome structure via single gamete sequencing

open access: yesGenome Biology, 2021
Genetic maps have been fundamental to building our understanding of disease genetics and evolutionary processes. The gametes of an individual contain all of the information required to perform a de novo chromosome-scale assembly of an individual’s genome,
Ruqian Lyu   +3 more
doaj   +1 more source

Role of phase partitioning in coordinating DNA damage response: focus on the Apurinic Apyrimidinic Endonuclease 1 interactome

open access: yesBiomolecular Concepts, 2020
Liquid-liquid phase separation (LLPS) is a way to concentrate biochemical reactions while excluding noninteracting components. Disordered domains of proteins, as well as interaction with RNA, favor condensation but are not mandatory for modulating this ...
Tosolini Damiano   +3 more
doaj   +1 more source

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

open access: yesFrontiers in Oncology, 2023
BackgroundXeroderma pigmentosum (XP), a rare disease with defects in DNA repair genes, has >1,000-fold increased risk of ultraviolet-induced skin cancers.
Elvelyn R. Fernandez   +7 more
doaj   +1 more source

Home - About - Disclaimer - Privacy