The invention further relates to the applications of the polypeptide, such as the use thereof for treating and/or preventing diseases caused by an increase in oxidative stress and/or damage to cellular DNA, such as ataxia-telangiectasia or dyskeratosis congenita, or the use thereof in tissue ...
The result was tested experimentally. The scientists asked: If so many mutations are caused by DNA damage, why is the number of accumulated mutations related to the number of cell doublings? The experiments were conducted in collaboration with scientists from the Karolinska Institute, Sweden. The c...
affected by neurodegenerative diseases, the last years of the previous century and the first decade of the present one have been largely dedicated to the search of markers of DNA damage in neuronal samples and peripheral tissues of patients in early, intermediate or late stages of neurodegeneration...
et al. The Nova Scotia (Type D) form of Niemann-Pick disease is caused by a G3097 to T transversion in NPC1. Am. J. Hum. Genet. 63, 52–54 (1998). Download references Acknowledgements F.M.P. is a Royal Society Wolfson Merit award holder and a Wellcome Trust Investigator in ...
DNA repair. In addition, while most currently used antidepressants are based on the manipulation of the neurotransmitter regulation in managing different mental abnormalities, they are able to prevent or reverse neurotoxin-induced DNA damage. Therefore, it may be plausible to target on genomic DNA ...
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering condition caused by pathogenic variants in the COL7A1 gene and may present with different disease endotypes. In this study, the authors characterise a cohort of RDEB adults to highlight variations in immune cell phenotypes and ...
Human rabies: caused by rabies virus is a disease of high mortality, transmitted by animal bites and causes serious damage to the central nervous system. Hand-foot-mouth syndrome: hand-foot-mouth syndrome (SMPB), also called hand-foot-mouth disease is a common contagious viral infection in chi...
Mitochondrial diseases (MDs) are a group of genetic disorders caused by mutations in genes encoded by nuclear DNA (nDNA) and mitochondrial DNA (mtDNA), whose functions are necessary to sustain oxidative phosphorylation (OXPHOS), the final step of aerobic metabolism. Although considered rare individua...
(PUFA-PLs). Recent studies have shown that the mechanism underlying ferroptosis involves an imbalance of the cell redox system caused by iron-mediated toxic phospholipid hydroperoxide (PLOOH) metabolism disorders, which eventually cause oxidative damage to the cell membrane and proteins; therefore, ...
Another zinc-binding transcription factor with multiple important roles in the DDR is p53 [206]. p53 is a multi-tasking protein activated by DNA damage that co-ordinates several DNA repair activities. Thus, it has been termed a “guardian of the genome” [207]. p53 participates in several ...