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Title
Clinical syndromes associated with Coenzyme Q
10
deficiency
Authors
Keywords
-
Journal
Essays in Biochemistry
Volume 62, Issue 3, Pages 377-398
Publisher
Portland Press Ltd.
Online
2018-07-20
DOI
10.1042/ebc20170107
References
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Related references
Note: Only part of the references are listed.- 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
- The dilemma of diagnosing coenzyme Q 10 deficiency in muscle
- (2018) Roan Louw et al. MOLECULAR GENETICS AND METABOLISM
- Mitochondrial CoQ deficiency is a common driver of mitochondrial oxidants and insulin resistance
- (2018) Daniel J Fazakerley et al. eLife
- 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
- 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
- Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation
- (2017) Chunyue Feng et al. 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
- The Role of Sulfide Oxidation Impairment in the Pathogenesis of Primary CoQ Deficiency
- (2017) Catarina M. Quinzii et al. Frontiers in Physiology
- 4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency
- (2017) Diran Herebian et al. Annals of Clinical and Translational Neurology
- 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
- Emerging role of hydrogen sulfide-microRNA crosstalk in cardiovascular diseases
- (2016) Bryan T. Hackfort et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Distribution and dynamics of quinones in the lipid bilayer mimicking the inner membrane of mitochondria
- (2016) Petri Kaurola et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency
- (2016) Hsiu-Chuan Yen et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- Cerebellar ataxia and severe muscle CoQ10deficiency in a patient with a novel mutation inADCK3
- (2016) E. Barca et al. CLINICAL GENETICS
- 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
- Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function
- (2016) Brendan J. Floyd et al. MOLECULAR CELL
- Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity
- (2016) Jonathan A. Stefely et al. MOLECULAR CELL
- Coenzyme Q and Its Role in the Dietary Therapy against Aging
- (2016) Alfonso Varela-López et al. MOLECULES
- 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
- 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
- Molecular diagnosis of coenzyme Q10deficiency
- (2015) Delia Yubero et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease
- (2015) Min Peng et al. HUMAN MOLECULAR GENETICS
- 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
- Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesis
- (2015) Ying Wang et al. Nature Communications
- 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
- Coenzyme Q supplementation or over-expression of the yeast Coq8 putative kinase stabilizes multi-subunit Coq polypeptide complexes in yeast coq null mutants
- (2014) Cuiwen H. He et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Regulation of coenzyme Q biosynthesis in yeast: A new complex in the block
- (2014) Isabel González-Mariscal et al. IUBMB LIFE
- 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
- The Role of Antioxidants in Skin Cancer Prevention and Treatment
- (2014) Aleksandar Godic et al. Oxidative Medicine and Cellular Longevity
- 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
- 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
- Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes
- (2013) Raquel Montero et al. MITOCHONDRION
- 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
- 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
- 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
- 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
- Primary and secondary CoQ10 deficiencies in humans
- (2011) Catarina M. Quinzii et al. BIOFACTORS
- Coenzyme Q Biosynthesis: Coq6 Is Required for the C5-Hydroxylation Reaction and Substrate Analogs Rescue Coq6 Deficiency
- (2011) Mohammad Ozeir et al. CHEMISTRY & BIOLOGY
- 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
- Calorie restriction modifies ubiquinone and COQ transcript levels in mouse tissues
- (2011) Cristina Parrado-Fernández et al. FREE RADICAL BIOLOGY AND MEDICINE
- 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
- 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
- Is coenzyme Q a key factor in aging?
- (2010) Guillermo López-Lluch et al. MECHANISMS OF AGEING AND DEVELOPMENT
- Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy
- (2010) Mike Gerards et al. MITOCHONDRION
- 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
- Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
- (2009) Sabrina Sacconi et al. NEUROMUSCULAR DISORDERS
- 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
- 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
- Hydroxylation of demethoxy-Q6 constitutes a control point in yeast coenzyme Q6 biosynthesis
- (2008) S. Padilla et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Coq10, a mitochondrial coenzyme Q binding protein, is required for proper respiration in Schizosaccharomyces pombe
- (2008) Tie-Zhong Cui et al. FEBS Journal
- Ubiquinone biosynthesis inSaccharomyces cerevisiae: the molecular organization ofO-methylase Coq3p depends on Abc1p/Coq8p
- (2008) Anja Tauche et al. FEMS YEAST RESEARCH
- Reactivity of ubiquinone and ubiquinol with superoxide and the hydroperoxyl radical: implications for in vivo antioxidant activity
- (2008) A MAROZ et al. FREE RADICAL BIOLOGY AND MEDICINE
- Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency
- (2008) Giovanni Montini et al. NEW ENGLAND JOURNAL OF MEDICINE
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