Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
about
Treatment for mitochondrial disordersTreatment for mitochondrial disordersThe myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneA mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyA nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseasePrenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disordersCoenzyme Q and Its Role in the Dietary Therapy against AgingMitochondrial disease in childhood: nuclear encodedMissense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisThe COQ2 genotype predicts the severity of coenzyme Q10 deficiencyEnergy failure: does it contribute to neurodegeneration?Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effectsScreening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compoundCoenzyme Q Biosynthesis: Evidence for a Substrate Access Channel in the FAD-Dependent Monooxygenase Coq6Biochemical functions of coenzyme Q10Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.Autosomal recessive cerebellar ataxias.The in-depth evaluation of suspected mitochondrial diseaseNovel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryIsoprenoids, small GTPases and Alzheimer's disease.Clinical presentations of coenzyme q10 deficiency syndromeCoenzyme q10 therapyBiochemical diagnosis of coenzyme q10 deficiency.Coenzyme q and the respiratory chain: coenzyme q pool and mitochondrial supercomplexesTherapies in inborn errors of oxidative metabolism.The effects of idebenone on mitochondrial bioenergeticsTargeting cellular energy production in neurological disorders.Disruption of the histidine triad nucleotide-binding hint2 gene in mice affects glycemic control and mitochondrial function.The neuro-ophthalmology of mitochondrial diseaseClinical spectrum and diagnosis of mitochondrial disorders.Epidemiology and treatment of mitochondrial disorders.Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction.Exploring the genetic basis of early-onset chronic kidney disease.COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.The use of antioxidants in Friedreich's ataxia treatment.Renal mitochondrial cytopathies.Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
P2860
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P2860
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
description
2000 nî lūn-bûn
@nan
2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Quinone-responsive multiple re ...... pread coenzyme Q10 deficiency.
@ast
Quinone-responsive multiple re ...... pread coenzyme Q10 deficiency.
@en
type
label
Quinone-responsive multiple re ...... pread coenzyme Q10 deficiency.
@ast
Quinone-responsive multiple re ...... pread coenzyme Q10 deficiency.
@en
prefLabel
Quinone-responsive multiple re ...... pread coenzyme Q10 deficiency.
@ast
Quinone-responsive multiple re ...... pread coenzyme Q10 deficiency.
@en
P2093
P1433
P1476
Quinone-responsive multiple re ...... pread coenzyme Q10 deficiency.
@en
P2093
D Chretien
E L Appelkvist
M Lebideau
P304
P356
10.1016/S0140-6736(00)02531-9
P407
P577
2000-07-01T00:00:00Z