Results 211 to 220 of about 59,918 (258)

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Covalent PARylation of DNA base excision repair proteins regulates DNA demethylation. [PDF]

Nat Commun
Schwarz SD, Xu J, Gunasekera K, Schürmann D, Vågbø CB, Ferrari E, Slupphaug G, Hottiger MO, Schär P, Steinacher R.   +9 more
europepmc   +1 more source

Base excision repair and double strand break repair cooperate to modulate the formation of unrepaired double strand breaks in mouse brain. [PDF]

Nat Commun
Polyzos AA, Cheong A, Yoo JH, Blagec L, Toprani SM, Nagel ZD, McMurray CT.   +6 more
europepmc   +1 more source

Long non-coding RNA LIP interacts with PARP-1 influencing the efficiency of base excision repair. [PDF]

Noncoding RNA Res
Zuo Y, He J, Zhou Z, Sun J, Ouyang C, Huang H, Wang Y, Liu H, Reed SH.   +8 more
europepmc   +1 more source

Germline haploinsufficiency for the base excision repair gene MUTYH causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancer

Sherwood K, Fernandez-Tajes J, Gül G, Thorn S, Ward JC, Wilson JF, Palles C, Bishop DT, Houlston RS, Dunlop MG, Tomlinson IP.   +10 more
europepmc   +1 more source

SIRT2 promotes base excision repair by transcriptionally activating OGG1 in an ATM/ATR-dependent manner. [PDF]

Nucleic Acids Res
Geng A, Sun J, Tang H, Yu Y, Wang X, Zhang J, Wang X, Sun X, Zhou X, Gao N, Tan R, Xu Z, Jiang Y, Mao Z.   +13 more
europepmc   +1 more source

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Base Excision Repair

2006
From the simplest to the most complex organism, cells have to perform a myriad of tasks to ensure cellular maintenance, survival, reproduction and even cell death. The orchestration of these tasks is performed by the many cellular proteins coded for in our genetic material, or DNA.
Meira, LB, Burgis, NE, Samson, LD
openaire   +4 more sources

The base excision repair pathway

Trends in Biochemical Sciences, 1995
The base excision repair pathway has evolved to protect cells from the deleterious effects of endogenous DNA damage induced by hydrolysis, reactive oxygen species and other intracellular metabolites that modify DNA base structure. However, base excision repair is also important to resist lesions produced by ionizing radiation and strong alkylating ...
E, Seeberg, L, Eide, M, Bjørås
openaire   +2 more sources

Mitochondrial Base Excision Repair Assays

2012
Mitochondrial DNA (mtDNA) is constantly exposed to oxidative injury. Due to its location close to the main site of reactive oxygen species, the inner mitochondrial membrane, mtDNA is more susceptible than nuclear DNA to oxidative damage. The accumulation of DNA damage is thought to be particularly deleterious in post-mitotic cells, including neurons ...
Gredilla, Ricardo, Stevnsner, Tinna; id_orcid 0000-0003-1007-0427   +1 more
openaire   +3 more sources

Base excision DNA repair

Cellular and Molecular Life Sciences, 2008
DNA repair is a collection of several multienzyme, multistep processes keeping the cellular genome intact against genotoxic insults. One of these processes is base excision repair, which deals with the most ubiquitous lesions in DNA: oxidative base damage, alkylation, deamination, sites of base loss and single-strand breaks, etc.
openaire   +2 more sources