Primary Coenzyme Q10 Deficiency: An Update

Coenzyme Q10 Metabolism: A Review of Unresolved Issues

(2023) David Mantle et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Coenzyme Q biochemistry and biosynthesis

(2023) Rachel M. Guerra et al.   TRENDS IN BIOCHEMICAL SCIENCES

Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders

(2023) Juliane Münch et al.   Antioxidants

A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants

(2022) Na Wang et al.   Frontiers in Genetics

Case Report: Two Families With HPDL Related Neurodegeneration

(2022) Ieva Micule et al.   Frontiers in Genetics

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

(2022) Stefania Drovandi et al.   KIDNEY INTERNATIONAL

Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

(2022) Stefania Drovandi et al.   KIDNEY INTERNATIONAL

A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options

(2022) Ying Wang et al.   Molecular Genetics and Metabolism Reports

Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy

(2022) Lisette Leeuwen et al.   CLINICAL GENETICS

Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene

(2022) Aydan Değerliyurt et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Mitochondrial Dysfunction and Neurodegenerative Disorders: Role of Nutritional Supplementation

(2022) David Mantle et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The efficacy of coenzyme Q 10 treatment in alleviating the symptoms of primary coenzyme Q 10 deficiency: A systematic review

(2022) Ying Wang et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants

(2022) Dong Woo Nam et al.   Biomed Research International

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

(2022) Justyna Paprocka et al.   Metabolites

Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency

(2022) Jeannette Y. Stallworth et al.   OPHTHALMIC GENETICS

COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree

(2021) Min Li et al.   RENAL FAILURE

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

(2021) María Alcázar-Fabra et al.   FREE RADICAL BIOLOGY AND MEDICINE

New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts

(2021) Serena Mero et al.   JOURNAL OF NEUROLOGY

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

(2021) Manuela Wiessner et al.   BRAIN

The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway

(2021) Robert S. Banh et al.   NATURE

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

(2021) Lucia Laugwitz et al.   JOURNAL OF MEDICAL GENETICS

Clinico‐genetic, imaging and molecular delineation of COQ8A ‐ataxia: a multicenter study of 59 patients

(2020) Andreas Traschütz et al.   ANNALS OF NEUROLOGY

Bioavailability of Coenzyme Q10: An Overview of the Absorption Process and Subsequent Metabolism

(2020) David Mantle et al.   Antioxidants

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

(2020) Ralf A. Husain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of human mitochondrial PDSS and COQ proteins and their roles in maintaining coenzyme Q10 levels and each other's stability

(2020) Hsiu-Chuan Yen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

COQ8B nephropathy: Early detection and optimal treatment

(2020) Xiaoxiang Song et al.   Molecular Genetics & Genomic Medicine

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

(2020) Francesca Nardecchia et al.   Annals of Clinical and Translational Neurology

Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome

(2019) Mei Lu et al.   JOURNAL OF HUMAN GENETICS

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype

(2019) Zeynep Yuruk Yildirim et al.   European Journal of Medical Genetics

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration

(2019) Ahmet Okay Caglayan et al.   CEREBELLUM

Human COQ10A and COQ10B are distinct lipid-binding START domain proteins required for coenzyme Q function

(2019) Hui S. Tsui et al.   JOURNAL OF LIPID RESEARCH

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

(2019) Mullin Ho-Chung Yu et al.   npj Genomic Medicine

A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report

(2019) Xia Wu et al.   BMC Medical Genetics

Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

(2019) Tsz-ki Ling et al.   CLINICA CHIMICA ACTA

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation

(2019) Asburce Olgac et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Coenzyme Q 10 deficiencies: pathways in yeast and humans

(2018) Agape M. Awad et al.   Essays in Biochemistry

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

(2018) Amanda C. Smith et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Bioavailability of coenzyme Q 10 supplements depends on carrier lipids and solubilization

(2018) Guillermo López-Lluch et al.   NUTRITION

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

(2018) Michelle C. Starr et al.   PEDIATRIC NEPHROLOGY

CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy—a case report

(2018) Małgorzata Stańczyk et al.   PEDIATRIC NEPHROLOGY

Response to early coenzyme Q10 supplementation is not sustained in CoQ10 deficiency caused by CoQ2 mutation

(2018) Fehime K. Eroglu et al.   PEDIATRIC NEUROLOGY

New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient

(2018) Cheng-Cheng Song et al.   CHINESE MEDICAL JOURNAL

Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome

(2018) Guo-min Li et al.   BMC Nephrology

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency

(2017) May Christine V. Malicdan et al.   HUMAN MUTATION

Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment

(2017) Ying Wang et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation

(2017) Chunyue Feng et al.   MEDICINE

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency

(2017) Béla Iványi et al.   PEDIATRIC NEPHROLOGY

Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q 10 deficiency harboring a heterozygous mutation in COQ4 gene

(2017) Damià Romero-Moya et al.   Stem Cell Research

Biochemistry of Mitochondrial Coenzyme Q Biosynthesis

(2017) Jonathan A. Stefely et al.   TRENDS IN BIOCHEMICAL SCIENCES

Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data

(2017) Bryan G. Hughes et al.   Scientific Reports

ADCK3mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

(2016) O. Hikmat et al.   EUROPEAN JOURNAL OF NEUROLOGY

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

(2016) Martial Mallaret et al.   JOURNAL OF NEUROLOGY

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

(2015) Gloria Brea-Calvo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Determination of urinary coenzyme Q10by HPLC with electrochemical detection: Reference values for a paediatric population

(2015) Dèlia Yubero et al.   BIOFACTORS

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

(2015) Maria Andrea Desbats et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

(2015) Katharina Danhauser et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Coq6 Is Responsible for the C4-deamination Reaction in Coenzyme Q Biosynthesis inSaccharomyces cerevisiae

(2015) Mohammad Ozeir et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of Coq11, a New Coenzyme Q Biosynthetic Protein in the CoQ-Synthome inSaccharomyces cerevisiae

(2015) Christopher M. Allan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations inCOQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

(2015) Wendy K Chung et al.   JOURNAL OF MEDICAL GENETICS

Rescue of primary ubiquinone deficiency due to a novelCOQ7defect using 2,4–dihydroxybensoic acid

(2015) Christoph Freyer et al.   JOURNAL OF MEDICAL GENETICS

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

(2015) E. Korkmaz et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

(2014) Theresa P.T. Nguyen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Effect of Coenzyme Q10 supplementation on mitochondrial electron transport chain activity and mitochondrial oxidative stress in Coenzyme Q10 deficient human neuronal cells

(2014) K.E. Duberley et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

(2014) C. E. Sadowski et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis

(2014) D. C. Lohman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)

(2013) Emmanuel Scalais et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

(2013) Shazia Ashraf et al.   JOURNAL OF CLINICAL INVESTIGATION

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

(2013) Cyril Mignot et al.   Orphanet Journal of Rare Diseases

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

(2012) Leonardo Salviati et al.   JOURNAL OF MEDICAL GENETICS

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

(2012) Valeria Vasta et al.   PEDIATRICS INTERNATIONAL

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

(2011) Rita Horvath et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

(2010) Catarina M. Quinzii et al.   FASEB JOURNAL

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

(2010) Luis C. López et al.   PLoS One

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS