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 sidechain. It is thus extremely hydrophobic and resides in membranes. It is …

New variants expand the neurological phenotype of COQ7 deficiency

MA Fabra, AJ Paredes‐Fuentes… - Journal of Inherited …, 2024 - Wiley Online Library
The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3‐
demethoxyubiquinol (DMQ10) in the second to last steps of the pathway. COQ7 mutations …

A non-canonical Puf3p-binding sequence regulates CAT5/COQ7 mRNA under both fermentable and respiratory conditions in budding yeast

S Hayashi, K Iwamoto, T Yoshihisa - Plos one, 2023 - journals.plos.org
The Saccharomyces cerevisiae uses a highly glycolytic metabolism, if glucose is available,
through appropriately suppressing mitochondrial functions except for some of them such as …

Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants

MA Desbats, L Salviati - Brain, 2023 - academic.oup.com
Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants |
Brain | Oxford Academic Skip to Main Content Advertisement Oxford Academic Journals …

COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction

I Pettenuzzo, S Carli, A Sánchez-Cuesta… - European Journal of …, 2024 - nature.com
COQ7 pathogenetic variants cause primary CoQ10 deficiency and a clinical phenotype of
encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is …

Clinical, biochemical and molecular characterization of a new case with FDX2‐related mitochondrial disorder: Potential biomarkers and treatment options

P Wongkittichote, C Pantano, M He, X Hong… - JIMD …, 2024 - Wiley Online Library
Abstract Ferredoxin‐2 (FDX2) is an electron transport protein required for iron–sulfur
clusters biosynthesis. Pathogenic variants in FDX2 have been associated with autosomal …

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia

Y Qiu, Y Xiong, L Wang, M Zhu, D Tan… - Annals of Clinical and …, 2024 - Wiley Online Library
Biallelic mutations in the coenzyme Q7 (COQ7) encoding gene were recently identified as a
genetic cause of distal hereditary motor neuropathy. Here, we explored the clinical …

[PDF][PDF] New variants expand the neurological phenotype of COQ7 deficiency

M Alcazar-Fabra, AJ Paredes-Fuentes… - 2024 - scientiasalut.gencat.cat
The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3-
demethoxyubiquinol (DMQ10) in the second to last steps of the pathway. COQ7 mutations …