[HTML][HTML] Regulation of Nrf2 by mitochondrial reactive oxygen species in physiology and pathology

S Kasai, S Shimizu, Y Tatara, J Mimura, K Itoh - Biomolecules, 2020 - mdpi.com
Reactive oxygen species (ROS) are byproducts of aerobic respiration and signaling
molecules that control various cellular functions. Nrf2 governs the gene expression of …

The mitochondrial transcription factor TFAM in neurodegeneration: emerging evidence and mechanisms

I Kang, CT Chu, BA Kaufman - FEBS letters, 2018 - Wiley Online Library
The mitochondrial transcription factor A, or TFAM, is a mitochondrial DNA (mt DNA)‐binding
protein essential for genome maintenance. TFAM functions in determining the abundance of …

In vivo imaging of mitochondrial DNA mutations using an integrated nano Cas12a sensor

Y Li, Y Wu, R Xu, J Guo, F Quan, Y Zhang… - Nature …, 2023 - nature.com
Mutations in mitochondrial DNA (mtDNA) play critical roles in many human diseases. In vivo
visualization of cells bearing mtDNA mutations is important for resolving the complexity of …

Mitochondrial DNA editing in mice with DddA-TALE fusion deaminases

H Lee, S Lee, G Baek, A Kim, BC Kang, H Seo… - Nature …, 2021 - nature.com
DddA-derived cytosine base editors (DdCBEs), composed of the split interbacterial toxin
DddAtox, transcription activator-like effector (TALE), and uracil glycosylase inhibitor (UGI) …

MitoTALEN reduces mutant mtDNA load and restores tRNAAla levels in a mouse model of heteroplasmic mtDNA mutation

SR Bacman, JHK Kauppila, CV Pereira, N Nissanka… - Nature medicine, 2018 - nature.com
Mutations in the mitochondrial DNA (mtDNA) are responsible for several metabolic
disorders, commonly involving muscle and the central nervous system. Because of the …

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

AE Frazier, DR Thorburn, AG Compton - Journal of Biological Chemistry, 2019 - jbc.org
Inherited disorders of oxidative phosphorylation cause the clinically and genetically
heterogeneous diseases known as mitochondrial energy generation disorders, or …

Mitochondrial DNA variation across 56,434 individuals in gnomAD

KM Laricchia, NJ Lake, NA Watts, M Shand… - Genome …, 2022 - genome.cshlp.org
Genomic databases of allele frequency are extremely helpful for evaluating clinical variants
of unknown significance; however, until now, databases such as the Genome Aggregation …

Intellectual disability genomics: current state, pitfalls and future challenges

N Maia, MJ Nabais Sá, M Melo-Pires, APM de Brouwer… - BMC genomics, 2021 - Springer
Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being
responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic …

The role of mitochondrial dynamics in oocyte and early embryo development

RM Yildirim, E Seli - Seminars in Cell & Developmental Biology, 2024 - Elsevier
Mitochondrial dysfunction is widely implicated in various human diseases, through
mechanisms that go beyond mitochondria's well-established role in energy generation …

Mitochondrial protein interaction landscape of SS-31

JD Chavez, X Tang, MD Campbell, G Reyes… - Proceedings of the …, 2020 - pnas.org
Mitochondrial dysfunction underlies the etiology of a broad spectrum of diseases including
heart disease, cancer, neurodegenerative diseases, and the general aging process …