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) …

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 …

[HTML][HTML] Disorders of human coenzyme Q10 metabolism: an overview

I Hargreaves, RA Heaton, D Mantle - International journal of molecular …, 2020 - mdpi.com
Coenzyme Q10 (CoQ10) has a number of vital functions in all cells, both mitochondrial and
extramitochondrial. In addition to its key role in mitochondrial oxidative phosphorylation …

[HTML][HTML] 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 …

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

EMM Hoytema van Konijnenburg, SB Wortmann… - Orphanet journal of rare …, 2021 - Springer
Abstract Background The Treatable ID App was created in 2012 as digital tool to improve
early recognition and intervention for treatable inherited metabolic disorders (IMDs) …

Coenzyme Q10 deficiencies: pathways in yeast and humans

AM Awad, MC Bradley… - Essays in …, 2018 - portlandpress.com
Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial
respiratory electron transport and serves as an important antioxidant. In human and yeast …

[HTML][HTML] Coenzyme Q10 and cardiovascular diseases

FM Gutierrez-Mariscal, S de la Cruz-Ares… - Antioxidants, 2021 - mdpi.com
Coenzyme Q 10 (CoQ 10), which plays a key role in the electron transport chain by
providing an adequate, efficient supply of energy, has another relevant function as an …

Understanding coenzyme Q

Y Wang, N Lilienfeldt, S Hekimi - Physiological Reviews, 2024 - journals.physiology.org
Coenzyme Q (CoQ), also known as ubiquinone, comprises a benzoquinone head group and
a long isoprenoid side chain. It is thus extremely hydrophobic and resides in membranes. It …

[HTML][HTML] Primary coenzyme Q10 deficiency: an update

D Mantle, L Millichap, J Castro-Marrero, IP Hargreaves - Antioxidants, 2023 - mdpi.com
Coenzyme Q10 (CoQ10) has a number of vital functions in all cells, both mitochondrial and
extra-mitochondrial. In addition to its key role in mitochondrial oxidative phosphorylation …

Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

M Alcázar-Fabra, F Rodríguez-Sánchez… - Free Radical Biology …, 2021 - Elsevier
Abstract Primary Coenzyme Q (CoQ) deficiencies are clinically heterogeneous conditions
and lack clear genotype-phenotype correlations, complicating diagnosis and prognostic …