CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. - Test2 - elhamkhani - TriplyDB

CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

http://www.wikidata.org/entity/Q35870630

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Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches Mitochondrial biogenesis through activation of nuclear signaling proteins A guide to diagnosis and treatment of Leigh syndrome.Oxidative stress and mitochondrial dysfunction across broad-ranging pathologies: toward mitochondria-targeted clinical strategies.Therapies in inborn errors of oxidative metabolism.Coenzyme Q supplementation in pulmonary arterial hypertension.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies.UPR(mt)-mediated cytoprotection and organismal aging.Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesis Drug development for rare mitochondrial disorders Review of clinical trials for mitochondrial disorders: 1997-2012.Evaluation of the child with suspected mitochondrial liver disease Mitochondrial-associated metabolic disorders: foundations, pathologies and recent progress.The clinical maze of mitochondrial neurology Mitochondrial diseases: advances and issues.Molecular genetics of ubiquinone biosynthesis in animals.Analytical problems with the determination of coenzyme Q10 in biological samples.Towards the harmonization of outcome measures in children with mitochondrial disorders.Mitochondrial dysfunction in the pathophysiology of renal diseases.Impact of Chemical Analogs of 4-Hydroxybenzoic Acid on Coenzyme Q Biosynthesis: From Inhibition to Bypass of Coenzyme Q Deficiency.Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.Sustained AMPK activation improves muscle function in a mitochondrial myopathy mouse model by promoting muscle fiber regeneration.Mitochondrial respiration without ubiquinone biosynthesis.Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes.Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.MitoQ supplementation prevent long-term impact of maternal smoking on renal development, oxidative stress and mitochondrial density in male mice offspring.A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure

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P2860

CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

http://www.wikidata.org/entity/Q35870630

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

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CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

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type

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CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

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CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

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CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

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CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

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J.BBAGEN.2012.01.006

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Biochimica et Biophysica Acta

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CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

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Catarina M Quinzii

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Caterina Garone

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Michio Hirano

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P2860

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

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

Structure of the membrane domain of respiratory complex I

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

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