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 …
and lack clear genotype-phenotype correlations, complicating diagnosis and prognostic …
COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency
J Paprocka, M Nowak, P Chuchra, R Śmigiel - Metabolites, 2022 - mdpi.com
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 …
leads to dysfunction of the respiratory chain. The disease is usually present as childhood …
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy
A Jacquier, J Theuriet, F Fontaine, V Mosbach… - Brain, 2023 - academic.oup.com
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 …
leading to distal weakness. We report a family of two brothers and a sister affected by distal …
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
AP Rebelo, PJ Tomaselli, J Medina, Y Wang, MF Dohrn… - Brain, 2023 - academic.oup.com
COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10
(CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions …
(CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions …
Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease
Background COQ4 codes for a mitochondrial protein required for coenzyme Q10 (CoQ10)
biosynthesis. Autosomal recessive COQ4‐associated CoQ10 deficiency leads to an early …
biosynthesis. Autosomal recessive COQ4‐associated CoQ10 deficiency leads to an early …
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
P Wongkittichote, MLD Lasio, M Magistrati… - Molecular genetics and …, 2023 - Elsevier
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 …
metabolism caused by defects in CoQ 10 biosynthesis. Biallelic pathogenic variants in …
A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population
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 …
had a history of a neurological disorder since toddling with a phenotype reminiscent of …
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 …
a long isoprenoid sidechain. It is thus extremely hydrophobic and resides in membranes. It is …
NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants
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 …
(NMNAT) enzyme fuels NAD as a co-substrate for a group of enzymes. Mutations in the …
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
IC Smith, CA Pileggi, Y Wang, K Kernohan… - Neurology …, 2023 - AAN Enterprises
Background and Objectives Coenzyme Q10 (CoQ10) is an important electron carrier and
antioxidant. The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 …
antioxidant. The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 …