The chemistry of reactive oxygen species (ROS) revisited: outlining their role in biological macromolecules (DNA, lipids and proteins) and induced pathologies

CA Juan, JM Pérez de la Lastra, FJ Plou… - International journal of …, 2021 - mdpi.com
Living species are continuously subjected to all extrinsic forms of reactive oxidants and
others that are produced endogenously. There is extensive literature on the generation and …

Genetic and biological hallmarks of colorectal cancer

J Li, X Ma, D Chakravarti, S Shalapour… - Genes & …, 2021 - genesdev.cshlp.org
Colorectal cancer has served as a genetic and biological paradigm for the evolution of solid
tumors, and these insights have illuminated early detection, risk stratification, prevention …

Mitochondrial DNA copy number in human disease: the more the better?

R Filograna, M Mennuni, D Alsina, NG Larsson - FEBS letters, 2021 - Wiley Online Library
Most of the genetic information has been lost or transferred to the nucleus during the
evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that …

CRISPR-free base editors with enhanced activity and expanded targeting scope in mitochondrial and nuclear DNA

BY Mok, AV Kotrys, A Raguram, TP Huang… - Nature …, 2022 - nature.com
The all-protein cytosine base editor DdCBE uses TALE proteins and a double-stranded DNA-
specific cytidine deaminase (DddA) to mediate targeted C• G-to-T• A editing. To improve …

Mitochondrial genetics through the lens of single-cell multi-omics

L Nitsch, CA Lareau, LS Ludwig - Nature genetics, 2024 - nature.com
Mitochondria carry their own genetic information encoding for a subset of protein-coding
genes and translational machinery essential for cellular respiration and metabolism. Despite …

Mitochondrial DNA variation and cancer

PK Kopinski, LN Singh, S Zhang, MT Lott… - Nature Reviews …, 2021 - nature.com
Variation in the mitochondrial DNA (mtDNA) sequence is common in certain tumours. Two
classes of cancer mtDNA variants can be identified: de novo mutations that act as 'inducers' …

Pan-cancer analysis of whole genomes

Nature, 2020 - nature.com
Cancer is driven by genetic change, and the advent of massively parallel sequencing has
enabled systematic documentation of this variation at the whole-genome scale,–. Here we …

Extreme heterogeneity of human mitochondrial DNA from organelles to populations

JB Stewart, PF Chinnery - Nature Reviews Genetics, 2021 - nature.com
Contrary to the long-held view that most humans harbour only identical mitochondrial
genomes, deep resequencing has uncovered unanticipated extreme genetic variation within …

Lineage tracing in humans enabled by mitochondrial mutations and single-cell genomics

LS Ludwig, CA Lareau, JC Ulirsch, E Christian, C Muus… - Cell, 2019 - cell.com
Lineage tracing provides key insights into the fate of individual cells in complex organisms.
Although effective genetic labeling approaches are available in model systems, in humans …

[HTML][HTML] Thinking outside the nucleus: Mitochondrial DNA copy number in health and disease

CA Castellani, RJ Longchamps, J Sun, E Guallar… - Mitochondrion, 2020 - Elsevier
Mitochondrial DNA copy number (mtDNA-CN) is a biomarker of mitochondrial function and
levels of mtDNA-CN have been reproducibly associated with overall mortality and a number …