Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
about
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 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 deficiencyCoenzyme Q and Its Role in the Dietary Therapy against AgingThe Interaction Between Statins and Exercise: Mechanisms and Strategies to Counter the Musculoskeletal Side Effects of This Combination TherapyThe 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 AccumulationCoenzyme 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 injuryEvidence for somatic gene conversion and deletion in bipolar disorder, Crohn's disease, coronary artery disease, hypertension, rheumatoid arthritis, type-1 diabetes, and type-2 diabetes.Past, present and future therapeutics for cerebellar ataxias.Clinical presentations of coenzyme q10 deficiency syndromePathomechanisms in coenzyme q10-deficient human fibroblasts.Biochemical diagnosis of coenzyme q10 deficiency.An overview of current mouse models recapitulating coenzyme q10 deficiency syndromeHereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.A Drosophila model for primary coenzyme Q deficiency and dietary rescue in the developing nervous systemAnalysis of COQ2 gene in multiple system atrophy.Calorie restriction modifies ubiquinone and COQ transcript levels in mouse tissues.A modern approach to the treatment of mitochondrial diseaseMitofusin 2 is required to maintain mitochondrial coenzyme Q levels.Renal mitochondrial cytopathies.176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyPrimary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.Mutations in coenzyme Q10 biosynthetic genes.Renal involvement in mitochondrial cytopathies.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.FAT1 mutations cause a glomerulotubular nephropathyGene Therapy Corrects Mitochondrial Dysfunction in Hematopoietic Progenitor Cells and Fibroblasts from Coq9R239X Mice.Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesisHeterogeneity of coenzyme Q10 deficiency: patient study and literature review.Coenzyme Q10: is there a clinical role and a case for measurement?Coenzyme Q10 supplementation rescues renal disease in Pdss2kd/kd mice with mutations in prenyl diphosphate synthase subunit 2Bringing Bioactive Compounds into Membranes: The UbiA Superfamily of Intramembrane Aromatic Prenyltransferases.
P2860
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P2860
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
description
2007 nî lūn-bûn
@nan
2007 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մարտին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@ast
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@en
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@nl
type
label
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@ast
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@en
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@nl
prefLabel
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@ast
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@en
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@nl
P2093
P2860
P50
P3181
P356
P1476
Prenyldiphosphate synthase, su ...... tive phosphorylation disorders
@en
P2093
Agnès Delahodde
Delphine Bacq
Dimitri Schlemmer
Gustav Dallner
Irina Giurgea
Julie Mollet
Pascale de Lonlay
P2860
P304
P3181
P356
10.1172/JCI29089
P407
P577
2007-03-01T00:00:00Z