[HTML][HTML] Mitochondrial DNA replication and repair defects: Clinical phenotypes and therapeutic interventions

A Roy, A Kandettu, S Ray, S Chakrabarty - Biochimica et Biophysica Acta …, 2022 - Elsevier
Mitochondria is a unique cellular organelle involved in multiple cellular processes and is
critical for maintaining cellular homeostasis. This semi-autonomous organelle contains its …

Frataxin is essential for extramitochondrial Fe–S cluster proteins in mammalian tissues

A Martelli, M Wattenhofer-Donze… - Human molecular …, 2007 - academic.oup.com
Friedreich ataxia, the most common recessive ataxia, is caused by the deficiency of the
mitochondrial protein frataxin (Fxn), an iron chaperone involved in the assembly of Fe–S …

[HTML][HTML] Tracing the fates of site-specifically introduced DNA adducts in the human genome

M Yasui, Y Kanemaru, N Kamoshita, T Suzuki… - DNA repair, 2014 - Elsevier
We developed a system for tracing DNA adducts in targeted mutagenesis (TATAM) and
investigated the prevalence and types of consequent mutations. Targeted mutagenesis …

Base excision repair, aging and health span

G Xu, M Herzig, V Rotrekl, CA Walter - Mechanisms of ageing and …, 2008 - Elsevier
DNA damage and mutagenesis are suggested to contribute to aging through their ability to
mediate cellular dysfunction. The base excision repair (BER) pathway ameliorates a large …

Enzyme mechanism-based, oxidative DNA–protein cross-links formed with DNA polymerase β in vivo

JL Quiñones, U Thapar, K Yu, Q Fang… - Proceedings of the …, 2015 - National Acad Sciences
Free radical attack on the C1′ position of DNA deoxyribose generates the oxidized abasic
(AP) site 2-deoxyribonolactone (dL). Upon encountering dL, AP lyase enzymes such as …

[HTML][HTML] Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase

M Muftuoglu, NC de Souza-Pinto, A Dogan… - Journal of Biological …, 2009 - ASBMB
Cockayne syndrome (CS) is a premature aging condition characterized by sensitivity to UV
radiation. However, this phenotype does not explain the progressive neurodegeneration in …

[HTML][HTML] Expression patterns of Neil3 during embryonic brain development and neoplasia

GA Hildrestrand, CG Neurauter, DB Diep… - BMC neuroscience, 2009 - Springer
Background The base excision repair pathway is responsible for repairing small DNA base
lesions caused by endogenous and exogenous damaging agents. Repair is initiated by …

Characterization of mutant MUTYH proteins associated with familial colorectal cancer

M Ali, H Kim, S Cleary, C Cupples, S Gallinger… - Gastroenterology, 2008 - Elsevier
Background & Aims: The human mutyh gene encodes a base excision repair protein that
prevents G: C to T: A transversions in DNA. Biallelic mutations in this gene are associated …

[HTML][HTML] Oxidative damage in the progression of chronic liver disease to hepatocellular carcinoma: an intricate pathway

R Cardin, M Piciocchi, M Bortolami… - World journal of …, 2014 - ncbi.nlm.nih.gov
The histo-pathologic and molecular mechanisms leading to initiation and progression of
hepatocellular carcinoma (HCC) are still ill-defined; however, there is increasing evidence …

Removal of oxidatively generated DNA damage by overlapping repair pathways

V Shafirovich, NE Geacintov - Free Radical Biology and Medicine, 2017 - Elsevier
It is generally believed that the mammalian nucleotide excision repair pathway removes
DNA helix-distorting bulky DNA lesions, while small non-bulky lesions are repaired by base …