Cockayne syndrome: Clinical features, model systems and pathways

AC Karikkineth, M Scheibye-Knudsen, E Fivenson… - Ageing research …, 2017 - Elsevier
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features
including cachectic dwarfism, severe neurological manifestations including microcephaly …

Tumour predisposition and cancer syndromes as models to study gene–environment interactions

M Carbone, ST Arron, B Beutler, A Bononi… - Nature Reviews …, 2020 - nature.com
Cell division and organismal development are exquisitely orchestrated and regulated
processes. The dysregulation of the molecular mechanisms underlying these processes …

Interplay between metabolic identities in the intestinal crypt supports stem cell function

MJ Rodríguez-Colman, M Schewe, M Meerlo, E Stigter… - Nature, 2017 - nature.com
The small intestinal epithelium self-renews every four or five days. Intestinal stem cells
(Lgr5+ crypt base columnar cells (CBCs)) sustain this renewal and reside between …

Reactive oxygen species induced p53 activation: DNA damage, redox signaling, or both?

T Shi, TB Dansen - Antioxidants & Redox Signaling, 2020 - liebertpub.com
Significance: The p53 tumor suppressor has been dubbed the “guardian of genome”
because of its various roles in the response to DNA damage such as DNA damage repair …

DNA damage and mitochondria in cancer and aging

J Patel, BA Baptiste, E Kim, M Hussain… - …, 2020 - academic.oup.com
Age and DNA repair deficiencies are strong risk factors for developing cancer. This is
reflected in the comorbidity of cancer with premature aging diseases associated with DNA …

Chemoptogenetic damage to mitochondria causes rapid telomere dysfunction

W Qian, N Kumar, V Roginskaya… - Proceedings of the …, 2019 - National Acad Sciences
Reactive oxygen species (ROS) play important roles in aging, inflammation, and cancer.
Mitochondria are an important source of ROS; however, the spatiotemporal ROS events …

Mechanisms of mitochondrial DNA repair in mammals

LA Zinovkina - Biochemistry (Moscow), 2018 - Springer
Accumulation of mutations in mitochondrial DNA leads to the development of severe,
currently untreatable diseases. The contribution of these mutations to aging and progress of …

DNA repair after oxidative stress: current challenges

B Van Houten, GA Santa-Gonzalez… - Current opinion in …, 2018 - Elsevier
Reactive oxygen and nitrogen species damage cellular macromolecules including DNA.
Cells have a robust base excision repair pathway to deal with this damage in both nuclear …

Mitochondrial H2O2 release does not directly cause damage to chromosomal DNA

DMK van Soest, PE Polderman, WTF den Toom… - Nature …, 2024 - nature.com
Abstract Reactive Oxygen Species (ROS) derived from mitochondrial respiration are
frequently cited as a major source of chromosomal DNA mutations that contribute to cancer …

Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA

M Scheibye-Knudsen, A Tseng… - Proceedings of the …, 2016 - National Acad Sciences
Cockayne syndrome is a neurodegenerative accelerated aging disorder caused by
mutations in the CSA or CSB genes. Although the pathogenesis of Cockayne syndrome has …