Abstract Primary Coenzyme Q (CoQ) deficiencies are clinically heterogeneous conditions
and lack clear genotype-phenotype correlations, complicating diagnosis and prognostic …

COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis
leads to dysfunction of the respiratory chain. The disease is usually present as childhood …

Distal hereditary motor neuropathy represents a group of motor inherited neuropathies
leading to distal weakness. We report a family of two brothers and a sister affected by distal …

COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10
(CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions …

Background COQ4 codes for a mitochondrial protein required for coenzyme Q10 (CoQ10)
biosynthesis. Autosomal recessive COQ4‐associated CoQ10 deficiency leads to an early …

Abstract Primary coenzyme Q10 (CoQ 10) deficiency is a group of inborn errors of
metabolism caused by defects in CoQ 10 biosynthesis. Biallelic pathogenic variants in …

To the Editor, A 7-year-old boy originating from Iran, born to consanguineous parents, who
had a history of a neurological disorder since toddling with a phenotype reminiscent of …

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 …

In the NAD biosynthetic network, the nicotinamide mononucleotide adenylyltransferase
(NMNAT) enzyme fuels NAD as a co-substrate for a group of enzymes. Mutations in the …

Background and Objectives Coenzyme Q10 (CoQ10) is an important electron carrier and
antioxidant. The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 …