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) …

The genetics and pathology of mitochondrial disease

CL Alston, MC Rocha, NZ Lax… - The Journal of …, 2017 - Wiley Online Library
Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

Accessory subunits are integral for assembly and function of human mitochondrial complex I

DA Stroud, EE Surgenor, LE Formosa, B Reljic… - Nature, 2016 - nature.com
Complex I (NADH: ubiquinone oxidoreductase) is the first enzyme of the mitochondrial
respiratory chain and is composed of 45 subunits in humans, making it one of the largest …

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 …

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 …

[HTML][HTML] MLKL, the protein that mediates necroptosis, also regulates endosomal trafficking and extracellular vesicle generation

S Yoon, A Kovalenko, K Bogdanov, D Wallach - Immunity, 2017 - cell.com
Activation of the pseudokinase mixed lineage kinase domain-like (MLKL) upon its
phosphorylation by the protein kinase RIPK3 triggers necroptosis, a form of programmed cell …

MiD49 and MiD51, new components of the mitochondrial fission machinery

CS Palmer, LD Osellame, D Laine… - EMBO …, 2011 - embopress.org
Mitochondria form intricate networks through fission and fusion events. Here, we identify
mitochondrial dynamics proteins of 49 and 51 kDa (MiD49 and MiD51, respectively) …

[HTML][HTML] Understanding mitochondrial complex I assembly in health and disease

M Mimaki, X Wang, M McKenzie, DR Thorburn… - … et Biophysica Acta (BBA …, 2012 - Elsevier
Complex I (NADH: ubiquinone oxidoreductase) is the largest multimeric enzyme complex of
the mitochondrial respiratory chain, which is responsible for electron transport and the …

Adaptor proteins MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission

CS Palmer, KD Elgass, RG Parton, LD Osellame… - Journal of Biological …, 2013 - ASBMB
Drp1 (dynamin-related protein 1) is recruited to both mitochondrial and peroxisomal
membranes to execute fission. Fis1 and Mff are Drp1 receptor/effector proteins of …

Building a complex complex: Assembly of mitochondrial respiratory chain complex I

LE Formosa, MG Dibley, DA Stroud, MT Ryan - Seminars in cell & …, 2018 - Elsevier
Mitochondrial complex I is the primary entry point for electrons into the electron transport
chain, required for the bulk of cellular ATP production via oxidative phosphorylation …