Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
about
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneCOQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Genotype-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 disordersCoenzyme 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 TherapyMitochondrial disease in childhood: nuclear encodedGenetic causes of focal segmental glomerulosclerosis: implications for clinical practiceBiochemical diagnosis of mitochondrial disordersMissense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisTreatment 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 AccumulationNon-additive genome-wide association scan reveals a new gene associated with habitual coffee consumptionA cis-regulatory mutation of PDSS2 causes silky-feather in chickensHistorical perspective on mitochondrial medicineFunctional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal diseaseGenetic testing in steroid-resistant nephrotic syndrome: when and how?The in-depth evaluation of suspected mitochondrial diseaseNovel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryMitochondrial disorders of the nuclear genomeClinical 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 syndromeAssociation between genetic variants in the Coenzyme Q10 metabolism and Coenzyme Q10 status in humansBioenergetic characterization of mouse podocytes.Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.Therapeutic prospects for mitochondrial disease.A Drosophila model for primary coenzyme Q deficiency and dietary rescue in the developing nervous systemReactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiencyExploring the genetic basis of early-onset chronic kidney disease.The genetics of Leigh syndrome and its implications for clinical practice and risk managementCollapsing focal segmental glomerulosclerosis resulting from a single dose of zoledronate
P2860
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P2860
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին 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
Leigh syndrome with nephropath ...... se subunit 2 (PDSS2) mutations
@ast
Leigh syndrome with nephropath ...... se subunit 2 (PDSS2) mutations
@en
type
label
Leigh syndrome with nephropath ...... se subunit 2 (PDSS2) mutations
@ast
Leigh syndrome with nephropath ...... se subunit 2 (PDSS2) mutations
@en
prefLabel
Leigh syndrome with nephropath ...... se subunit 2 (PDSS2) mutations
@ast
Leigh syndrome with nephropath ...... se subunit 2 (PDSS2) mutations
@en
P2093
P2860
P50
P356
P1476
Leigh syndrome with nephropath ...... se subunit 2 (PDSS2) mutations
@en
P2093
Catarina M Quinzii
Markus Schuelke
Michio Hirano
Salvatore Dimauro
P2860
P304
P356
10.1086/510023
P407
P577
2006-10-27T00:00:00Z