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 …

Mechanisms and regulation of protein synthesis in mitochondria

E Kummer, N Ban - Nature Reviews Molecular Cell Biology, 2021 - nature.com
Mitochondria are cellular organelles responsible for generation of chemical energy in the
process called oxidative phosphorylation. They originate from a bacterial ancestor and …

Ribosome biogenesis in disease: new players and therapeutic targets

L Jiao, Y Liu, XY Yu, X Pan, Y Zhang, J Tu… - … and Targeted Therapy, 2023 - nature.com
The ribosome is a multi-unit complex that translates mRNA into protein. Ribosome
biogenesis is the process that generates ribosomes and plays an essential role in cell …

Organization and expression of the mammalian mitochondrial genome

O Rackham, A Filipovska - Nature Reviews Genetics, 2022 - nature.com
The mitochondrial genome encodes core subunits of the respiratory chain that drives
oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in …

tRNA dysregulation and disease

EA Orellana, E Siegal, RI Gregory - Nature Reviews Genetics, 2022 - nature.com
Abstract tRNAs are key adaptor molecules that decipher the genetic code during translation
of mRNAs in protein synthesis. In contrast to the traditional view of tRNAs as ubiquitously …

Molecular basis of human nuclear and mitochondrial tRNA 3′ processing

A Bhatta, B Kuhle, RD Yu, L Spanaus, K Ditter… - Nature Structural & …, 2025 - nature.com
Eukaryotic transfer RNA (tRNA) precursors undergo sequential processing steps to become
mature tRNAs. In humans, ELAC2 carries out 3′ end processing of both nucleus-encoded …

Quantitative subcellular reconstruction reveals a lipid mediated inter-organelle biogenesis network

RG Lee, DL Rudler, SA Raven, L Peng, A Chopin… - Nature Cell …, 2024 - nature.com
The structures and functions of organelles in cells depend on each other but have not been
systematically explored. We established stable knockout cell lines of peroxisomal, Golgi and …

The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication

M Jiang, X **e, X Zhu, S Jiang, D Milenkovic, J Misic… - Science …, 2021 - science.org
We report a role for the mitochondrial single-stranded DNA binding protein (mtSSB) in
regulating mitochondrial DNA (mtDNA) replication initiation in mammalian mitochondria …

Transcriptomic and proteomic landscape of mitochondrial dysfunction reveals secondary coenzyme Q deficiency in mammals

I Kühl, M Miranda, I Atanassov, I Kuznetsova, Y Hinze… - elife, 2017 - elifesciences.org
Dysfunction of the oxidative phosphorylation (OXPHOS) system is a major cause of human
disease and the cellular consequences are highly complex. Here, we present comparative …

Structural basis of RNA processing by human mitochondrial RNase P

A Bhatta, C Dienemann, P Cramer… - Nature Structural & …, 2021 - nature.com
Human mitochondrial transcripts contain messenger and ribosomal RNAs flanked by
transfer RNAs (tRNAs), which are excised by mitochondrial RNase (mtRNase) P and Z to …