A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
about
Genetic determinants of statin intoleranceThe myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneUbiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesisGenotype-phenotype correlations in non-Finnish congenital nephrotic syndromeA nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseaseCABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizuresADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyPrenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disordersNew Pathogenic Concepts and Therapeutic Approaches to Oxidative Stress in Chronic Kidney DiseaseCoenzyme Q and Its Role in the Dietary Therapy against AgingGenetic causes of focal segmental glomerulosclerosis: implications for clinical practiceMissense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisThe COQ2 genotype predicts the severity of coenzyme Q10 deficiencyTreatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effectsAarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal AccumulationHistorical perspective on mitochondrial medicineCoenzyme Q protects Caenorhabditis elegans GABA neurons from calcium-dependent degeneration.Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal diseaseThe 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 injuryMitochondrial disorders of the nuclear genomeMolecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.Clinical presentations of coenzyme q10 deficiency syndromePathomechanisms in coenzyme q10-deficient human fibroblasts.Coenzyme q10 therapyBiochemical diagnosis of coenzyme q10 deficiency.An overview of current mouse models recapitulating coenzyme q10 deficiency syndromeAssociation between genetic variants in the Coenzyme Q10 metabolism and Coenzyme Q10 status in humansHereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.Therapeutic prospects for mitochondrial disease.Statin drug interactions and related adverse reactions.Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.Analysis of COQ2 gene in multiple system atrophy.Negative regulation of STAT3 protein-mediated cellular respiration by SIRT1 protein.A modern approach to the treatment of mitochondrial diseaseRenal mitochondrial cytopathies.Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
P2860
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P2860
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
description
2006 nî lūn-bûn
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2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@ast
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@en
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@nl
type
label
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@ast
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@en
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@nl
prefLabel
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@ast
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@en
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@nl
P2093
P2860
P921
P3181
P356
P1476
A mutation in para-hydroxybenz ...... rimary coenzyme Q10 deficiency
@en
P2093
Catarina Quinzii
Eva Trevisson
Leonardo Salviati
Michio Hirano
Placido Navas
Salvatore Dimauro
P2860
P3181
P356
10.1086/500092
P407
P577
2006-02-01T00:00:00Z