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 …

Roles of eukaryotic topoisomerases in transcription, replication and genomic stability

Y Pommier, Y Sun, SN Huang, JL Nitiss - Nature reviews Molecular cell …, 2016 - nature.com
Topoisomerases introduce transient DNA breaks to relax supercoiled DNA, remove
catenanes and enable chromosome segregation. Human cells encode six topoisomerases …

MitoFinder: Efficient automated large‐scale extraction of mitogenomic data in target enrichment phylogenomics

R Allio, A Schomaker‐Bastos… - Molecular ecology …, 2020 - Wiley Online Library
Thanks to the development of high‐throughput sequencing technologies, target enrichment
sequencing of nuclear ultraconserved DNA elements (UCEs) now allows routine inference …

Reversed-engineered human alveolar lung-on-a-chip model

D Huang, T Liu, J Liao, S Maharjan… - Proceedings of the …, 2021 - National Acad Sciences
Here, we present a physiologically relevant model of the human pulmonary alveoli. This
alveolar lung-on-a-chip platform is composed of a three-dimensional porous hydrogel made …

Doxorubicin causes ferroptosis and cardiotoxicity by intercalating into mitochondrial DNA and disrupting Alas1-dependent heme synthesis

K Abe, M Ikeda, T Ide, T Tadokoro, HD Miyamoto… - Science …, 2022 - science.org
Clinical use of doxorubicin (DOX) is limited because of its cardiotoxicity, referred to as DOX-
induced cardiomyopathy (DIC). Mitochondria-dependent ferroptosis, which is triggered by …

Landscape of adenosine-to-inosine RNA recoding across human tissues

O Gabay, Y Shoshan, E Kopel, U Ben-Zvi… - Nature …, 2022 - nature.com
RNA editing by adenosine deaminases changes the information encoded in the mRNA from
its genomic blueprint. Editing of protein-coding sequences can introduce novel, functionally …

Mitochondrial DNA copy number variation across human cancers

E Reznik, ML Miller, Y Şenbabaoğlu, N Riaz… - elife, 2016 - elifesciences.org
Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are
observed throughout cancers. Here, we survey mtDNA copy number variation across 22 …

On the length, weight and GC content of the human genome

A Piovesan, MC Pelleri, F Antonaros, P Strippoli… - BMC research …, 2019 - Springer
Objective Basic parameters commonly used to describe genomes including length, weight
and relative guanine-cytosine (GC) content are widely cited in absence of a primary source …

Complete vertebrate mitogenomes reveal widespread repeats and gene duplications

G Formenti, A Rhie, J Balacco, B Haase, J Mountcastle… - Genome biology, 2021 - Springer
Background Modern sequencing technologies should make the assembly of the relatively
small mitochondrial genomes an easy undertaking. However, few tools exist that address …

[HTML][HTML] Mitochondrial fusion exploits a therapeutic vulnerability of pancreatic cancer

M Yu, ND Nguyen, Y Huang, D Lin, TN Fujimoto… - Jci Insight, 2019 - ncbi.nlm.nih.gov
Pancreatic ductal adenocarcinoma (PDAC) requires mitochondrial oxidative
phosphorylation (OXPHOS) to fuel its growth; however, broadly inhibiting this pathway might …