Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis
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 diseaseThe 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 effectsFunctional conservation of coenzyme Q biosynthetic genes among yeasts, plants, and humansDysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiencyFunctional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.Cell survival from chemotherapy depends on NF-kappaB transcriptional up-regulation of coenzyme Q biosynthesis.CoQ10 Deficiency May Indicate Mitochondrial Dysfunction in Cr(VI) Toxicity.Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.Pathomechanisms in coenzyme q10-deficient human fibroblasts.Biochemical diagnosis of coenzyme q10 deficiency.Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.Calorie restriction modifies ubiquinone and COQ transcript levels in mouse tissues.Renal mitochondrial cytopathies.176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyPrimary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.Renal involvement in mitochondrial cytopathies.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Gene Therapy Corrects Mitochondrial Dysfunction in Hematopoietic Progenitor Cells and Fibroblasts from Coq9R239X Mice.The submitochondrial distribution of ubiquinone affects respiration in long-lived Mclk1+/- miceLarge-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.Host metabolism regulates intracellular growth of Trypanosoma cruzi.Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficienciesBringing Bioactive Compounds into Membranes: The UbiA Superfamily of Intramembrane Aromatic Prenyltransferases.Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.Coenzyme Q10 deficiencies in neuromuscular diseases.Therapeutic use of coenzyme Q10 and coenzyme Q10-related compounds and formulations.Coenzyme Q and mitochondrial diseasePrimary and secondary CoQ(10) deficiencies in humans.Molecular genetics of ubiquinone biosynthesis in animals.Renal manifestations of genetic mitochondrial disease.Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Invertebrate models for coenzyme q10 deficiency.
P2860
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P2860
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis
description
2007 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2007
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im Mai 2007 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2007/05/01)
@sk
vědecký článek publikovaný v roce 2007
@cs
wetenschappelijk artikel (gepubliceerd op 2007/05/01)
@nl
наукова стаття, опублікована в травні 2007
@uk
مقالة علمية (نشرت في مايو 2007)
@ar
name
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@ast
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@en
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@nl
type
label
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@ast
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@en
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@nl
prefLabel
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@ast
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@en
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@nl
P2093
P2860
P50
P3181
P356
P1476
Missense mutation of the COQ2 ...... d de novo pyrimidine synthesis
@en
P2093
Catarina Quinzii
Eva Trevisson
José M López-Martín
Leonardo Salviati
Michio Hirano
Plácido Navas
Salvatore DiMauro
P2860
P304
P3181
P356
10.1093/HMG/DDM058
P577
2007-03-20T00:00:00Z