Coenzyme Q and mitochondrial disease - Test2 - elhamkhani - TriplyDB

Coenzyme Q and mitochondrial disease

Coenzyme Q and mitochondrial disease

http://www.wikidata.org/entity/Q37785517

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Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis The Emerging Role of Disturbed CoQ Metabolism in Nonalcoholic Fatty Liver Disease Development and Progression Prophylactic treatment with coenzyme Q10 in patients undergoing cardiac surgery: could an antioxidant reduce complications? A systematic review and meta-analysis Mitochondrial disorders: challenges in diagnosis & treatment Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants Functional conservation of coenzyme Q biosynthetic genes among yeasts, plants, and humans Coenzyme Q Biosynthesis: Evidence for a Substrate Access Channel in the FAD-Dependent Monooxygenase Coq6 Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.Pathomechanisms in coenzyme q10-deficient human fibroblasts.Coenzyme q and the respiratory chain: coenzyme q pool and mitochondrial supercomplexes The effects of idebenone on mitochondrial bioenergetics Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.Renal mitochondrial cytopathies.Renal involvement in mitochondrial cytopathies.Friedreich Ataxia and nephrotic syndrome: a series of two patients Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice Restoring de novo coenzyme Q biosynthesis in Caenorhabditis elegans coq-3 mutants yields profound rescue compared to exogenous coenzyme Q supplementation.Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies Drug development for rare mitochondrial disorders An In Vitro Study of the Neurotoxic Effects of N-Benzylpiperazine: A Designer Drug of Abuse Mitochondrial protein functions elucidated by multi-omic mass spectrometry profiling.Mechanisms of mitochondrial diseases.New developments on the functions of coenzyme Q in mitochondria.Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).Sjøgren's syndrome-associated oxidative stress and mitochondrial dysfunction: prospects for chemoprevention trials.Molecular genetics of ubiquinone biosynthesis in animals.A review on the role of quinones in renal disorders.Primary coenzyme Q10 (CoQ 10) deficiencies and related nephropathies.Renal manifestations of genetic mitochondrial disease.Invertebrate models for coenzyme q10 deficiency.Strategies for oral delivery and mitochondrial targeting of CoQ10.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Mitochondrial respiration without ubiquinone biosynthesis.The role of DMQ(9) in the long-lived mutant clk-1.Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.

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Coenzyme Q and mitochondrial disease

http://www.wikidata.org/entity/Q37785517

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article científic

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on January 2010

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Coenzyme Q and mitochondrial disease

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Coenzyme Q and mitochondrial disease.

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Coenzyme Q and mitochondrial disease

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Coenzyme Q and mitochondrial disease

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Coenzyme Q and mitochondrial disease.

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Developmental Disabilities Research Reviews

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Catarina M Quinzii

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Michio Hirano

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P2860

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

Ubiquinone biosynthesis in Saccharomyces cerevisiae: the molecular organization of O-methylase Coq3p depends on Abc1p/Coq8p.

A defect in coenzyme Q biosynthesis is responsible for the respiratory deficiency in Saccharomyces cerevisiae abc1 mutants.

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

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183-188

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scholarly article

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10.1002/DDRR.108

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2

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16

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2010-01-01T00:00:00Z

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46150096

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20818733

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3097389

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