Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

MA Desbats, G Lunardi, M Doimo, E Trevisson… - Journal of inherited …, 2015 - Springer
Coenzyme Q 10 is a remarkable lipid involved in many cellular processes such as energy
production through the mitochondrial respiratory chain (RC), beta-oxidation of fatty acids …

Genetics of coenzyme q10 deficiency

M Doimo, MA Desbats, C Cerqua, M Cassina… - Molecular …, 2014 - karger.com
Abstract Coenzyme Q10 (CoQ10) is an essential component of eukaryotic cells and is
involved in crucial biochemical reactions such as the production of ATP in the mitochondrial …

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

V Emmanuele, LC López, A Berardo, A Naini… - Archives of …, 2012 - jamanetwork.com
Coenzyme Q 10 (CoQ 10) deficiency has been associated with 5 major clinical phenotypes:
encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia …

Human Coenzyme Q10 Deficiency

CM Quinzii, S DiMauro, M Hirano - Neurochemical research, 2007 - Springer
Ubiquinone (coenzyme Q 10 or CoQ 10) is a lipid-soluble component of virtually all cell
membranes and has multiple metabolic functions. Deficiency of CoQ 10 (MIM 607426) has …

The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene

M Luna‐Sánchez, E Díaz‐Casado, E Barca… - EMBO molecular …, 2015 - embopress.org
Abstract Primary coenzyme Q10 (CoQ10) deficiency is due to mutations in genes involved in
CoQ biosynthesis. The disease has been associated with five major phenotypes, but a …

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 …

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

L Salviati, E Trevisson, MAR Hernandez… - Journal of medical …, 2012 - jmg.bmj.com
Background COQ4 encodes a protein that organises the multienzyme complex for the
synthesis of coenzyme Q10 (CoQ10). A 3.9 Mb deletion of chromosome 9q34. 13 was …

Clinical syndromes associated with Coenzyme Q10 deficiency

M Alcázar-Fabra, E Trevisson… - Essays in …, 2018 - portlandpress.com
Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations
in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level …

Mutations in coenzyme Q10 biosynthetic genes

S DiMauro, CM Quinzii, M Hirano - The Journal of clinical …, 2007 - Am Soc Clin Investig
Although it was first described in 1989, our understanding of coenzyme Q10 (CoQ10)
deficiency is only now coming of age with the recent first description of the underlying …

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

G Brea-Calvo, TB Haack, D Karall, A Ohtake… - The American Journal of …, 2015 - cell.com
Primary coenzyme Q10 (CoQ 10) deficiencies are rare, clinically heterogeneous disorders
caused by mutations in several genes encoding proteins involved in CoQ 10 biosynthesis …