[HTML][HTML] Mitochondrial diseases: hope for the future

OM Russell, GS Gorman, RN Lightowlers, DM Turnbull - Cell, 2020 - cell.com
Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum
of mutations in genes encoded by either the nuclear or the mitochondrial genome …

Mitochondrial signalling and homeostasis: from cell biology to neurological disease

JJ Collier, M Oláhová, TG McWilliams… - Trends in neurosciences, 2023 - cell.com
Efforts to understand how mitochondrial dysfunction contributes to neurodegeneration have
primarily focussed on the role of mitochondria in neuronal energy metabolism. However …

Mitochondrial disease in adults: recent advances and future promise

YS Ng, LA Bindoff, GS Gorman, T Klopstock… - The Lancet …, 2021 - thelancet.com
Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

SL Stenton, H Prokisch - EBioMedicine, 2020 - thelancet.com
Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Mitochondrial function in development and disease

MP Rossmann, SM Dubois… - Disease models & …, 2021 - journals.biologists.com
Mitochondria are organelles with vital functions in almost all eukaryotic cells. Often
described as the cellular 'powerhouses' due to their essential role in aerobic oxidative …

Determinants, maintenance, and function of organellar pH

SA Freeman, S Grinstein… - Physiological reviews, 2023 - journals.physiology.org
The protonation state of soluble and membrane-associated macromolecules dictates their
charge, conformation, and functional activity. In addition, protons (H+ or their equivalents) …

[HTML][HTML] Mitochondrial OXPHOS biogenesis: co-regulation of protein synthesis, import, and assembly pathways

JX Tang, K Thompson, RW Taylor… - International Journal of …, 2020 - mdpi.com
The assembly of mitochondrial oxidative phosphorylation (OXPHOS) complexes is an
intricate process, which—given their dual-genetic control—requires tight co-regulation of two …

Mitochondrial disease in children

S Rahman - Journal of internal medicine, 2020 - Wiley Online Library
Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …

[HTML][HTML] Glycerol-3-phosphate biosynthesis regenerates cytosolic NAD+ to alleviate mitochondrial disease

S Liu, S Fu, G Wang, YU Cao, L Li, X Li, J Yang, N Li… - Cell metabolism, 2021 - cell.com
Electron transport chain (ETC) dysfunction or hypoxia causes toxic NADH accumulation.
How cells regenerate NAD+ under such conditions remains elusive. Here, integrating …

Diagnostics and analysis of SARS-CoV-2: current status, recent advances, challenges and perspectives

T Dong, M Wang, J Liu, P Ma, S Pang, W Liu… - Chemical Science, 2023 - pubs.rsc.org
The disastrous spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
has induced severe public healthcare issues and weakened the global economy …