Mitochondrial disorders of the OXPHOS system

E Fernandez‐Vizarra, M Zeviani - FEBS letters, 2021 - Wiley Online Library
Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …

Mitochondrial structure and bioenergetics in normal and disease conditions

M Protasoni, M Zeviani - International journal of molecular sciences, 2021 - mdpi.com
Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and
involved in various aspects of cellular life, with a primary role in energy production. The …

[HTML][HTML] Neural stem cells traffic functional mitochondria via extracellular vesicles

L Peruzzotti-Jametti, JD Bernstock, CM Willis… - PLoS …, 2021 - journals.plos.org
Neural stem cell (NSC) transplantation induces recovery in animal models of central
nervous system (CNS) diseases. Although the replacement of lost endogenous cells was …

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

G Sturm, KR Karan, AS Monzel, B Santhanam… - Communications …, 2023 - nature.com
Patients with primary mitochondrial oxidative phosphorylation (OxPhos) defects present with
fatigue and multi-system disorders, are often lean, and die prematurely, but the mechanistic …

Assembly of mammalian oxidative phosphorylation complexes I–V and supercomplexes

A Signes, E Fernandez-Vizarra - Essays in biochemistry, 2018 - portlandpress.com
The assembly of the five oxidative phosphorylation system (OXPHOS) complexes in the
inner mitochondrial membrane is an intricate process. The human enzymes comprise core …

Mitochondrial diseases in man and mouse

DC Wallace - Science, 1999 - science.org
Over the past 10 years, mitochondrial defects have been implicated in a wide variety of
degenerative diseases, aging, and cancer. Studies on patients with these diseases have …

[图书][B] Muscle biopsy: a practical approach: expert consult; online and print

V Dubowitz, CA Sewry, A Oldfors - 2013 - books.google.com
2014 BMA Medical Book Awards Highly Commended in Pathology category! Muscle Biopsy:
A Practical Approach gives you all of the unparalleled guidance necessary to effectively …

Respiratory active mitochondrial supercomplexes

R Acín-Pérez, P Fernández-Silva, ML Peleato… - Molecular cell, 2008 - cell.com
The structural organization of the mitochondrial respiratory complexes as four big
independently moving entities connected by the mobile carriers CoQ and cytochrome c has …

Mitochondrial disease

AHV Schapira - The Lancet, 2006 - thelancet.com
Defects of mitochondrial metabolism cause a wide range of human diseases that include
examples from all medical subspecialties. This review updates the topic of mitochondrial …

The clinical maze of mitochondrial neurology

S DiMauro, EA Schon, V Carelli, M Hirano - Nature Reviews Neurology, 2013 - nature.com
Mitochondrial diseases involve the respiratory chain, which is under the dual control of
nuclear and mitochondrial DNA (mtDNA). The complexity of mitochondrial genetics provides …