Coenzyme Q 10 deficiencies: pathways in yeast and humans

Clinical syndromes associated with Coenzyme Q 10 deficiency

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

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

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

Chromatin-remodeling SWI/SNF complex regulates coenzyme Q6synthesis and a metabolic shift to respiration in yeast

(2017) Agape M. Awad et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Ptc7p Dephosphorylates Select Mitochondrial Proteins to Enhance Metabolic Function

(2017) Xiao Guo et al.   Cell Reports

Transcriptomic and proteomic landscape of mitochondrial dysfunction reveals secondary coenzyme Q deficiency in mammals

(2017) Inge Kühl et al.   eLife

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

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency

(2017) Diran Herebian et al.   Annals of Clinical and Translational Neurology

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

TheCOQ2genotype predicts the severity of coenzyme Q10deficiency

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

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

Bringing Bioactive Compounds into Membranes: The UbiA Superfamily of Intramembrane Aromatic Prenyltransferases

(2016) Weikai Li   TRENDS IN BIOCHEMICAL SCIENCES

Coenzyme Q Biosynthesis: Evidence for a Substrate Access Channel in the FAD-Dependent Monooxygenase Coq6

(2016) Alexandre Ismail et al.   PLoS Computational 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

Structural and biochemical studies reveal UbiG/Coq3 as a class of novel membrane-binding proteins

(2015) Yuwei Zhu et al.   BIOCHEMICAL JOURNAL

Yeast Coq9 controls deamination of coenzyme Q intermediates that derive from para-aminobenzoic acid

(2015) Cuiwen H. He et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Coq7p relevant residues for protein activity and stability

(2015) Cleverson Busso et al.   BIOCHIMIE

Biosynthesis of coenzyme Q in eukaryotes

(2015) Makoto Kawamukai   BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY

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

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

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

Resveratrol andpara-coumarate serve as ring precursors for coenzyme Q biosynthesis

(2015) Letian X. Xie et al.   JOURNAL OF LIPID RESEARCH

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

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

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

Biosynthesis and physiology of coenzyme Q in bacteria

(2014) Laurent Aussel et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

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

Functional Conservation of Coenzyme Q Biosynthetic Genes among Yeasts, Plants, and Humans

(2014) Kazuhiro Hayashi et al.   PLoS One

Genetic Variation within the Mx Gene of Commercially Selected Chicken Lines Reveals Multiple Haplotypes, Recombination and a Protein under Selection Pressure

(2014) Janet E. Fulton et al.   PLoS One

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

Crystal structures and catalytic mechanism of theC-methyltransferase Coq5 provide insights into a key step of the yeast coenzyme Q synthesis pathway

(2014) Ya-Nan Dai et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Aging-Associated Enzyme Human Clock-1: Substrate-Mediated Reduction of the Diiron Center for 5-Demethoxyubiquinone Hydroxylation

(2013) Tsai-Te Lu et al.   BIOCHEMISTRY

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

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

A conserved START domain coenzyme Q-binding polypeptide is required for efficient Q biosynthesis, respiratory electron transport, and antioxidant function in Saccharomyces cerevisiae

(2012) Christopher M. Allan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Molecular genetics of ubiquinone biosynthesis in animals

(2012) Ying Wang et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Gene Knockout Using Transcription Activator-like Effector Nucleases (TALENs) Reveals That Human NDUFA9 Protein Is Essential for Stabilizing the Junction between Membrane and Matrix Arms of Complex I

(2012) David A. Stroud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

CDD: conserved domains and protein three-dimensional structure

(2012) Aron Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

Respiratory-induced coenzyme Q biosynthesis is regulated by a phosphorylation cycle of Cat5p/Coq7p

(2011) Alejandro Martín-Montalvo et al.   BIOCHEMICAL JOURNAL

Why does mitochondrial complex I have so many subunits?

(2011) Judy Hirst   BIOCHEMICAL JOURNAL

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

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

(2011) Mohammad Ozeir et al.   CHEMISTRY & BIOLOGY

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

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

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

(2011) B J C van den Bosch et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) Fabien Pierrel et al.   CHEMISTRY & BIOLOGY

Bacteria, yeast, worms, and flies: Exploiting simple model organisms to investigate human mitochondrial diseases

(2010) Shane L. Rea et al.   Developmental Disabilities Research Reviews

Site-directed mutagenesis and structural modeling of Coq10p indicate the presence of a tunnel for coenzyme Q6 binding

(2010) Cleverson Busso et al.   FEBS LETTERS

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

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

Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis

(2010) A. D. Sheftel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Iron–sulfur proteins in health and disease

(2010) Alex Sheftel et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

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

Alternative Splicing of PTC7 in Saccharomyces cerevisiae Determines Protein Localization

(2009) K. Juneau et al.   GENETICS

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

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

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