Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
about
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaPrimary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling networkA cis-regulatory mutation of PDSS2 causes silky-feather in chickensBacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseasesIntegrative analysis of independent transcriptome data for rare diseasesIntegrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction.Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryAn overview of current mouse models recapitulating coenzyme q10 deficiency syndromeA 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.Defining nephrotic syndrome from an integrative genomics perspective.Calorie restriction modifies ubiquinone and COQ transcript levels in mouse tissues.Glomerular proteinuria: a complex interplay between unique players.Renal mitochondrial cytopathies.Decaprenyl diphosphate synthase subunit 2 as a prognosis factor in hepatocellular carcinoma.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyApoptosis-inducing Factor (AIF) and Its Family Member Protein, AMID, Are Rotenone-sensitive NADH:Ubiquinone Oxidoreductases (NDH-2).Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice.Renal involvement in mitochondrial cytopathies.The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.Coenzyme Q10 restores oocyte mitochondrial function and fertility during reproductive agingProbucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant miceRestoring de novo coenzyme Q biosynthesis in Caenorhabditis elegans coq-3 mutants yields profound rescue compared to exogenous coenzyme Q supplementation.Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesisTissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegansCoenzyme Q10 supplementation rescues renal disease in Pdss2kd/kd mice with mutations in prenyl diphosphate synthase subunit 2Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.Collapsing glomerulopathy: beyond serendipity in mouse genetics.Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.Glomerular diseases: genetic causes and future therapeutics.Neurodevelopmental manifestations of mitochondrial disease.Coenzyme Q and mitochondrial diseaseMolecular genetics of ubiquinone biosynthesis in animals.Renal manifestations of genetic mitochondrial disease.
P2860
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P2860
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
@ast
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
@en
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
@nl
type
label
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
@ast
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
@en
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
@nl
prefLabel
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
@ast
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
@en
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
@nl
P2093
P2860
P1433
P1476
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
@en
P2093
Adam L Lunceford
Catherine F Clarke
David L Gasser
Erzsebet Polyak
Marc Yudkoff
Marni J Falk
Mary Selak
Rhonda King
P2860
P304
P356
10.1371/JOURNAL.PGEN.1000061
P577
2008-04-25T00:00:00Z