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 …

[HTML][HTML] Mitochondrial degradation: Mitophagy and beyond

L Uoselis, TN Nguyen, M Lazarou - Molecular cell, 2023 - cell.com
Mitochondria are central hubs of cellular metabolism that also play key roles in signaling
and disease. It is therefore fundamentally important that mitochondrial quality and activity …

POLG-related disorders and their neurological manifestations

S Rahman, WC Copeland - Nature Reviews Neurology, 2019 - nature.com
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites*[S]

Y Fukasawa, J Tsuji, SC Fu, K Tomii, P Horton… - Molecular & Cellular …, 2015 - ASBMB
Mitochondria provide numerous essential functions for cells and their dysfunction leads to a
variety of diseases. Thus, obtaining a complete mitochondrial proteome should be a crucial …

A mitochondrial SCF‐FBXL4 ubiquitin E3 ligase complex degrades BNIP3 and NIX to restrain mitophagy and prevent mitochondrial disease

Y Cao, J Zheng, H Wan, Y Sun, S Fu, S Liu, B He… - The EMBO …, 2023 - embopress.org
Mitophagy is a fundamental quality control mechanism of mitochondria. Its regulatory
mechanisms and pathological implications remain poorly understood. Here, via a …

[HTML][HTML] Mitochondrial DNA maintenance defects

AW El-Hattab, WJ Craigen, F Scaglia - Biochimica et Biophysica Acta (BBA) …, 2017 - Elsevier
The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-
encoded proteins including a battery of enzymes forming the replisome needed to …

Mutations causing mitochondrial disease: What is new and what challenges remain?

RN Lightowlers, RW Taylor, DM Turnbull - Science, 2015 - science.org
Mitochondrial diseases are among the most common and most complex of all inherited
genetic diseases. The involvement of both the mitochondrial and nuclear genome presents …

SCF ubiquitin ligase-targeted therapies

JR Skaar, JK Pagan, M Pagano - Nature reviews Drug discovery, 2014 - nature.com
The clinical successes of proteasome inhibitors for the treatment of cancer have highlighted
the therapeutic potential of targeting this protein degradation system. However, proteasome …

Lessons learned from additional research analyses of unsolved clinical exome cases

MK Eldomery, Z Coban-Akdemir, T Harel… - Genome medicine, 2017 - Springer
Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

Mitochondrial epilepsy, a challenge for neurologists

P Lopriore, F Gomes, V Montano, G Siciliano… - International journal of …, 2022 - mdpi.com
Primary mitochondrial diseases are relatively common inborn errors of energy metabolism,
with a combined prevalence of 1 in 4300. These disorders typically affect tissues with high …