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Molecular Syndromology, ISSN 1661-8769, 07/2014, Volume 5, Issue 3-4, pp. 156 - 162
Coenzyme Q10 (CoQ10) is an essential component of eukaryotic cells and is involved in crucial biochemical reactions such as the production of ATP in the... 
Further Section | Respiratory chain disorders | COQ genes | Primary CoQ10 deficiency | May, 2014 | Published online | Coenzyme Q10 | CoQ10
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2013, Volume 22, Issue 19, pp. 3819 - 3827
Coenzyme Q10 (CoQ10) is essential for the energy production of the cells and as an electron transporter in the mitochondrial respiratory chain. CoQ10 links the... 
FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE | SUPPLEMENTATION | ELECTRON-TRANSFER | FIBROMYALGIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MITOCHONDRIAL DYSFUNCTION | COQ DEFICIENCIES | Q DEFICIENCY | ETFDH MUTATIONS | CORONARY-ARTERY-DISEASE | CELL-DEATH | Reactive Oxygen Species - metabolism | Oxidative Stress | Humans | Ubiquinone - deficiency | Mitochondrial Diseases - metabolism | Iron-Sulfur Proteins - genetics | Ubiquinone - metabolism | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - complications | Riboflavin - pharmacology | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - drug therapy | Ubiquinone - pharmacology | Genetic Variation | Riboflavin - metabolism | Oxidation-Reduction - drug effects | Rhodobacter sphaeroides - metabolism | Ubiquinone - therapeutic use | Rhodobacter sphaeroides - genetics | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - metabolism | Acyl Coenzyme A - metabolism | Ataxia - metabolism | Fibroblasts - metabolism | Electron-Transferring Flavoproteins - genetics | Ubiquinone - analogs & derivatives | Bacterial Proteins - genetics | Cells, Cultured | Oxidoreductases Acting on CH-NH Group Donors - genetics | Mitochondria - metabolism | Oxidoreductases Acting on CH-NH Group Donors - metabolism | Electron-Transferring Flavoproteins - metabolism | Muscle Weakness - metabolism | Bacterial Proteins - metabolism | Iron-Sulfur Proteins - metabolism | Amino acids
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 187 - 191
Background COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q(10) (CoQ(10)). A 3.9 Mb deletion of chromosome 9q34.13... 
YEAST | MITOCHONDRIAL ENCEPHALOMYOPATHY | GENE | BIOSYNTHESIS | GENETICS & HEREDITY | MUSCLE | COQ DEFICIENCY | MUTATIONS
Journal Article
JOURNAL OF NEUROLOGY, ISSN 0340-5354, 11/2014, Volume 261, Issue 11, pp. 2192 - 2198
Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis... 
Autosomal recessive ataxia | Mitochondrial | ANO10 | PATIENT | Coenzyme Q (CoQ) deficiency | CLINICAL NEUROLOGY | REVEALS
Journal Article
Autophagy, ISSN 1554-8627, 01/2009, Volume 5, Issue 1, pp. 19 - 32
Coenzyme Q 10 (CoQ) is a small lipophilic molecule critical for the transport of electrons from complexes I and II to complex III in the mitochondrial... 
Binding | Proteins | Landes | Calcium | Bioscience | Biology | Cell | Cycle | Cancer | Organogenesis | Mitochondria | Mitochondrial permeability transition | Free radicals | Coenzyme Q | Mitophagy | Autophagy | Mitochondrial disease | PERMEABILITY TRANSITION PORE | free radicals | OXIDATIVE STRESS | autophagy | mitochondria | mitochondrial permeability transition | CULTURED SKIN FIBROBLASTS | COQ DEFICIENCY | RESPIRATORY-CHAIN SUPERCOMPLEXES | Q DEFICIENCY | POLYPRENYL TRANSFERASE | mitochondrial disease | CELL-DEATH | CELL BIOLOGY | mitophagy | CEREBELLAR-ATAXIA | HEART-MITOCHONDRIA | coenzyme Q | Mitochondria - enzymology | Electron Transport - drug effects | Reactive Oxygen Species - metabolism | Apoptosis - drug effects | Microtubule-Associated Proteins - metabolism | Humans | Ubiquinone - deficiency | Membrane Potential, Mitochondrial - drug effects | RNA, Messenger - metabolism | Fibroblasts - ultrastructure | Mitochondria - ultrastructure | Autophagy - drug effects | Ubiquinone - pharmacology | Mitochondrial Proteins - metabolism | Biomarkers - metabolism | Cell Survival - drug effects | Mitochondrial Membrane Transport Proteins - metabolism | RNA, Messenger - genetics | Mitochondria - metabolism | Mitochondria - drug effects | Fibroblasts - pathology | Blotting, Western | Syndrome | Gene Expression Regulation - drug effects | Animals | Autophagy-Related Protein 5 | Fibroblasts - drug effects | Cell Proliferation - drug effects | Mice
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 07/2014, Volume 1842, Issue 7, pp. 893 - 901
Coenzyme Q10 (CoQ ) deficiency (MIM ) causes a mitochondrial syndrome with variability in the clinical presentations. Patients with CoQ deficiency show... 
Mouse model | Ubiquinol-10 | CoQ10 deficiency | Mitochondrial encephalopathy | CoQ deficiency | OXIDATIVE STRESS | COQ | BIOCHEMISTRY & MOLECULAR BIOLOGY | MODEL | SUPPLEMENTATION | COENZYME Q | BIOPHYSICS | METABOLISM | LEIGH-SYNDROME | CEREBELLAR-ATAXIA | MUTATIONS | CORRELATE | Enzymes | Mitochondrial DNA | Encephalopathy | Analysis
Journal Article
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, ISSN 1473-7159, 08/2015, Volume 15, Issue 8, pp. 1049 - 1059
Coenzyme Q(10) (CoQ) deficiency syndromes comprise a growing number of neurological and extraneurological disorders. Primary-genetic but also secondary CoQ... 
next-generation sequencing | RESISTANT NEPHROTIC SYNDROME | MUSCLE | COQ DEFICIENCY | PATHOLOGY | muscle biopsy | SACCHAROMYCES-CEREVISIAE | coenzyme Q10 deficiency syndromes | mitochondrial diseases | MUTATIONS CAUSE | Q BIOSYNTHESIS | GENE | CEREBELLAR-ATAXIA | functional studies in yeasts | MITOCHONDRIAL DISORDERS | UBIQUINONE DEFICIENCY
Journal Article
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 01/2014, Volume 1842, Issue 1, pp. 1 - 6
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 10/2016, Volume 25, Issue 19, pp. 4256 - 4265
COQ2 (p-hydroxybenzoate polyprenyl transferase) encodes the enzyme required for the second step of the final reaction sequence of Coenzyme Q(10) (CoQ)... 
RAT-LIVER | PARA-HYDROXYBENZOATE | OXIDATIVE STRESS | INNER MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MITOCHONDRIA | MUTATION | GENETICS & HEREDITY | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | PDSS2 MUTANT MICE | TRANSFERASE
Journal Article
JOURNAL OF CLINICAL MEDICINE, ISSN 2077-0383, 03/2017, Volume 6, Issue 3
Coenzyme Q(10) (CoQ(10)) deficiency syndrome includes clinically heterogeneous mitochondrial diseases that show a variety of severe and debilitating symptoms.... 
RESPIRATORY-CHAIN | CoQ deficiency syndrome | DIPHOSPHATE SYNTHASE SUBUNIT-2 | mitochondria diseases | PHENOTYPIC VARIABILITY | COQ DEFICIENCY | MEDICINE, GENERAL & INTERNAL | MUTATIONS CAUSE | Q BIOSYNTHESIS | MITOCHONDRIAL ENCEPHALOMYOPATHY | CEREBELLAR-ATAXIA | ADCK3 | CoQ biosynthesis | UBIQUINONE DEFICIENCY | coenzyme Q
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 01/2017, Volume 9, Issue 1, pp. 78 - 95
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2018, Volume 41, Issue 4, pp. 719 - 729
Primary CoQ deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis... 
Prenatal | COQ9 | deficiency | Primary CoQ | Mitochondrial disease | Exome sequencing
Journal Article