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

The Impact of Unbalanced Maternal Nutritional Intakes on Oocyte Mitochondrial Activity: Implications for Reproductive Function

(2021) Gemma Fabozzi et al.   Antioxidants

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

(2020) Andreas Traschütz et al.   ANNALS OF NEUROLOGY

Cholesterol and beyond - The role of the mevalonate pathway in cancer biology

(2020) Andy Göbel et al.   BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER

COQ11 deletion mitigates respiratory deficiency caused by mutations in the gene encoding the coenzyme Q chaperone protein Coq10

(2020) Michelle C. Bradley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Abnormalities of hydrogen sulfide and glutathione pathways in mitochondrial dysfunction

(2020) Catarina M Quinzii et al.   Journal of Advanced Research

Metabolism of the Flavonol Kaempferol in Kidney Cells Liberates the B-ring to Enter Coenzyme Q Biosynthesis

(2020) Lucía Fernández-del-Río et al.   MOLECULES

Mitochondrial ubiquinol oxidation is necessary for tumour growth

(2020) Inmaculada Martínez-Reyes et al.   NATURE

COQ8B nephropathy: Early detection and optimal treatment

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

Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism

(2020) Pilar González-García et al.   HUMAN MOLECULAR GENETICS

Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review

(2020) Shu-bo Zhai et al.   BMC Nephrology

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background

(2019) Atsuko Imai-Okazaki et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease

(2019) Maryke Schoonen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Coenzyme Q biosynthetic proteins assemble in a substrate-dependent manner into domains at ER–mitochondria contacts

(2019) Kelly Subramanian et al.   JOURNAL OF CELL BIOLOGY

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

(2019) Ahmet Okay Caglayan et al.   CEREBELLUM

Plasma membrane redox enzymes: new therapeutic targets for neurodegenerative diseases

(2019) Dong-Hoon Hyun   ARCHIVES OF PHARMACAL RESEARCH

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

Drosophila ADCK1 is critical for maintaining mitochondrial structures and functions in the muscle

(2019) Woongchang Yoon et al.   PLoS Genetics

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6

(2019) Manuel J. Acosta Lopez et al.   Oxidative Medicine and Cellular Longevity

Pptc7 is an essential phosphatase for promoting mammalian mitochondrial metabolism and biogenesis

(2019) Natalie M. Niemi et al.   Nature Communications

Cross-examining candidate genes implicated in multiple system atrophy

(2019) Jared S. Katzeff et al.   Acta Neuropathologica Communications

Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia

(2019) Mohammadreza Hajjari et al.   GENE

Illustrate: Software for Biomolecular Illustration

(2019) David S. Goodsell et al.   STRUCTURE

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

(2019) Vázquez-Fonseca et al.   Journal of Clinical Medicine

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

Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy

(2019) Radha Procopio et al.   GENE

FSP1 is a glutathione-independent ferroptosis suppressor

(2019) Sebastian Doll et al.   NATURE

The CoQ oxidoreductase FSP1 acts parallel to GPX4 to inhibit ferroptosis

(2019) Kirill Bersuker et al.   NATURE

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

(2019) Serena Galosi et al.   PARKINSONISM & RELATED DISORDERS

Sp1 Mediates the Constitutive Expression and Repression of the PDSS2 Gene in Lung Cancer Cells

(2019) Lanyue Hu et al.   Genes

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

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

The Complexity of Making Ubiquinone

(2019) Ying Wang et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Clinical syndromes associated with Coenzyme Q 10 deficiency

(2018) María Alcázar-Fabra et al.   Essays in Biochemistry

Coenzyme Q 10 deficiencies: pathways in yeast and humans

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

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

(2018) Miao Sun et al.   GENETICS IN MEDICINE

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

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

The dilemma of diagnosing coenzyme Q 10 deficiency in muscle

(2018) Roan Louw et al.   MOLECULAR GENETICS AND METABOLISM

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

(2018) Raphaël Leman et al.   NUCLEIC ACIDS RESEARCH

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93

(2018) Martin Bezdíčka et al.   PEDIATRIC NEPHROLOGY

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

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

Coenzyme Q10 Supplementation in Aging and Disease

(2018) Juan D. Hernández-Camacho et al.   Frontiers in Physiology

Multi-omics Reveal Specific Targets of the RNA-Binding Protein Puf3p and Its Orchestration of Mitochondrial Biogenesis

(2018) Christopher P. Lapointe et al.   Cell Systems

CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway

(2018) Giulio Kleiner et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

(2018) Sukru Anil Dogan et al.   Cell Metabolism

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

(2018) Małgorzata Stańczyk et al.   PEDIATRIC NEPHROLOGY

A novel ADCK4 mutation in a Chinese family with ADCK4-Associated glomerulopathy

(2018) Jing Yang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice

(2018) Agustín Hidalgo‐Gutiérrez et al.   EMBO Molecular Medicine

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome

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

Coenzyme Q10 deficiency; A treatable autosomal recessive cerebellar ataxias

(2017) Gül Demet Kaya Ozcora et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Kaempferol increases levels of coenzyme Q in kidney cells and serves as a biosynthetic ring precursor

(2017) Lucía Fernández-del-Río et al.   FREE RADICAL BIOLOGY AND MEDICINE

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

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

(2017) Luis Vazquez Fonseca 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

Multi-omic Mitoprotease Profiling Defines a Role for Oct1p in Coenzyme Q Production

(2017) Mike T. Veling et al.   MOLECULAR CELL

Detection of 6-demethoxyubiquinone in CoQ 10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics

(2017) Diran Herebian et al.   MOLECULAR GENETICS AND METABOLISM

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

(2017) Béla Iványi et al.   PEDIATRIC NEPHROLOGY

Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations

(2017) Eujin Park et al.   PEDIATRIC NEPHROLOGY

Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment

(2017) Mustafa Atmaca et al.   PEDIATRIC NEPHROLOGY

Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

(2017) Damià Romero-Moya et al.   STEM CELLS

Biochemistry of Mitochondrial Coenzyme Q Biosynthesis

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

Impact of Chemical Analogs of 4-Hydroxybenzoic Acid on Coenzyme Q Biosynthesis: From Inhibition to Bypass of Coenzyme Q Deficiency

(2017) Fabien Pierrel   Frontiers in Physiology

Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome

(2017) Cuiwen H. He et al.   Frontiers in Physiology

The Role of Sulfide Oxidation Impairment in the Pathogenesis of Primary CoQ Deficiency

(2017) Catarina M. Quinzii et al.   Frontiers in Physiology

Biochemical Assessment of Coenzyme Q10 Deficiency

(2017) Juan Rodríguez-Aguilera et al.   Journal of Clinical Medicine

The Value of Coenzyme Q10 Determination in Mitochondrial Patients

(2017) Delia Yubero et al.   Journal of Clinical Medicine

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

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

Coenzyme Q biosynthesis and its role in the respiratory chain structure

(2016) María Alcázar-Fabra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Coenzyme Q biosynthesis in health and disease

(2016) Manuel Jesús Acosta et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Cerebellar ataxia and severe muscle CoQ10deficiency in a patient with a novel mutation inADCK3

(2016) E. Barca et al.   CLINICAL GENETICS

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

(2016) Marta Luna‐Sánchez et al.   EMBO Molecular Medicine

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

(2016) Marcello Ziosi et al.   EMBO Molecular Medicine

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

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

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

TheCOQ2genotype predicts the severity of coenzyme Q10deficiency

(2016) Maria Andrea Desbats et al.   HUMAN MOLECULAR GENETICS

Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum

(2016) Emanuele Barca et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

(2016) Ewa Pronicka et al.   Journal of Translational Medicine

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

(2016) Delia Yubero et al.   MITOCHONDRION

Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

(2016) Jonathan A. Stefely et al.   MOLECULAR CELL

Mitochondrial protein functions elucidated by multi-omic mass spectrometry profiling

(2016) Jonathan A Stefely et al.   NATURE BIOTECHNOLOGY

A novel CABC1/ADCK3 mutation in adult-onset cerebellar ataxia

(2016) K. Malgireddy et al.   PARKINSONISM & RELATED DISORDERS

Understanding Ubiquinone

(2016) Ying Wang et al.   TRENDS IN CELL BIOLOGY

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

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

Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria

(2015) Candice B. Summitt et al.   BIOCHEMICAL JOURNAL

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

(2015) Dèlia Yubero et al.   BIOFACTORS

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

(2015) M. Luna-Sanchez et al.   EMBO Molecular Medicine

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

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease

(2015) Min Peng et al.   HUMAN MOLECULAR 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

Mitochondrial ADCK3 Employs an Atypical Protein Kinase-like Fold to Enable Coenzyme Q Biosynthesis

(2015) Jonathan A. Stefely et al.   MOLECULAR CELL

RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation ofCOQ7

(2015) María V. Cascajo et al.   RNA Biology

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

Production of superoxide/H2O2 by dihydroorotate dehydrogenase in rat skeletal muscle mitochondria

(2014) Martin Hey-Mogensen et al.   FREE RADICAL BIOLOGY AND MEDICINE

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

(2014) Maria Andrea Desbats et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Analysis of COQ2 gene in multiple system atrophy

(2014) Kotaro Ogaki et al.   Molecular Neurodegeneration

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

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

(2013) Mara Doimo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

(2013) H. J. McCarthy et al.   Clinical Journal of the American Society of Nephrology

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

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

(2013) Darrell L. Dinwiddie et al.   GENOMICS

The Phosphatase Ptc7 Induces Coenzyme Q Biosynthesis by Activating the Hydroxylase Coq7 in Yeast

(2013) Alejandro Martín-Montalvo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

(2013) Nuria Buján et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

(2013) Y.-T. Liu et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A novel mutation in COQ2 leading to fatal infantile multisystem disease

(2013) Bernadette S. Jakobs et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Primary and secondary coenzyme Q10 deficiency: the role of therapeutic supplementation

(2013) Marnie Potgieter et al.   NUTRITION REVIEWS

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

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

Supercomplex Assembly Determines Electron Flux in the Mitochondrial Electron Transport Chain

(2013) E. Lapuente-Brun et al.   SCIENCE

Survival transcriptome in the coenzyme Q10deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10deficiencies

(2013) Daniel J M Fernández-Ayala et al.   BMJ Open

Heterogeneity of Coenzyme Q10Deficiency

(2012) Valentina Emmanuele et al.   ARCHIVES OF NEUROLOGY

The function and the role of the mitochondrial glycerol-3-phosphate dehydrogenase in mammalian tissues

(2012) Tomáš Mráček et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency

(2012) L. Garcia-Corzo et al.   HUMAN MOLECULAR GENETICS

Prerequisites for ubiquinone analogs to prevent mitochondrial permeability transition-induced cell death

(2012) Julie Belliere et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Overexpression of the Coq8 Kinase inSaccharomyces cerevisiae coqNull Mutants Allows for Accumulation of Diagnostic Intermediates of the Coenzyme Q6Biosynthetic Pathway

(2012) Letian X. Xie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

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

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

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

(2012) Valeria Vasta et al.   PEDIATRICS INTERNATIONAL

Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants

(2011) Letian X. Xie et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Coenzyme Q Biosynthesis: Coq6 Is Required for the C5-Hydroxylation Reaction and Substrate Analogs Rescue Coq6 Deficiency

(2011) Mohammad Ozeir et al.   CHEMISTRY & BIOLOGY

Coenzyme Q deficiency in muscle

(2011) Eva Trevisson et al.   CURRENT OPINION IN NEUROLOGY

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

(2011) Alessandra Terracciano et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Coenzyme Q – Biosynthesis and functions

(2010) Magnus Bentinger et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The electron transfer flavoprotein: Ubiquinone oxidoreductases

(2010) Nicholas J. Watmough et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Involvement of Mitochondrial Ferredoxin and Para-Aminobenzoic Acid in Yeast Coenzyme Q Biosynthesis

(2010) Fabien Pierrel et al.   CHEMISTRY & BIOLOGY

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

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

para-Aminobenzoic Acid Is a Precursor in Coenzyme Q6Biosynthesis inSaccharomyces cerevisiae

(2010) Beth Marbois et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

(2010) Mike Gerards et al.   MITOCHONDRION

Ubiquinone Analogs: A Mitochondrial Permeability Transition Pore-Dependent Pathway to Selective Cell Death

(2010) Flavien Devun 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

Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

(2009) Ángeles Rodríguez-Hernández et al.   Autophagy

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

(2009) M. Anheim et al.   NEUROGENETICS

Cell Survival from Chemotherapy Depends on NF-κB Transcriptional Up-Regulation of Coenzyme Q Biosynthesis

(2009) Gloria Brea-Calvo et al.   PLoS One

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

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

(2008) Alberto Casarin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis

(2008) Beth Marbois et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

(2008) Raquel Montero et al.   CLINICAL BIOCHEMISTRY

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency

(2008) Catarina M. Quinzii et al.   FASEB JOURNAL

Ubiquinone biosynthesis inSaccharomyces cerevisiae: the molecular organization ofO-methylase Coq3p depends on Abc1p/Coq8p

(2008) Anja Tauche et al.   FEMS YEAST RESEARCH

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE