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 …
including cachectic dwarfism, severe neurological manifestations including microcephaly …
Tumour predisposition and cancer syndromes as models to study gene–environment interactions
Cell division and organismal development are exquisitely orchestrated and regulated
processes. The dysregulation of the molecular mechanisms underlying these processes …
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 …
(Lgr5+ crypt base columnar cells (CBCs)) sustain this renewal and reside between …
Reactive oxygen species induced p53 activation: DNA damage, redox signaling, or both?
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 …
because of its various roles in the response to DNA damage such as DNA damage repair …
DNA damage and mitochondria in cancer and aging
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 …
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 …
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 …
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 …
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 …
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 …
mutations in the CSA or CSB genes. Although the pathogenesis of Cockayne syndrome has …