COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
about
COQ6 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 seizuresPathology of Podocytopathies Causing Nephrotic Syndrome in ChildrenPodocytesGenes and podocytes - new insights into mechanisms of podocytopathyThe 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 AccumulationPrimary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal diseaseGenetic testing in steroid-resistant nephrotic syndrome: when and how?Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.Potential urine proteomics biomarkers for primary nephrotic syndrome.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryMolecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.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 syndromeBioenergetic characterization of mouse podocytes.Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.Pathological similarities between low birth weight-related nephropathy and nephropathy associated with mitochondrial cytopathy.Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.Exploring the genetic basis of early-onset chronic kidney disease.Analysis of COQ2 gene in multiple system atrophy.Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.The podocyte power-plant disaster and its contribution to glomerulopathy.Pharmacological targeting of GSK3β confers protection against podocytopathy and proteinuria by desensitizing mitochondrial permeability transition.Renal mitochondrial cytopathies.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.Review series: The cell biology of renal filtration.176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyPrimary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.Focal segmental glomerulosclerosis: molecular genetics and targeted therapiesRenal 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.
P2860
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P2860
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին 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
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@ast
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@en
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@nl
type
label
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@ast
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@en
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@nl
prefLabel
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@ast
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@en
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@nl
P2093
P50
P356
P1476
COQ2 nephropathy: a newly desc ...... ith primary renal involvement.
@en
P2093
Filippo M Santorelli
Francesca Diomedi-Camassei
Francesco Emma
Laura Barisoni
Maria Luisa Valente
Silvia Di Giandomenico
P304
P356
10.1681/ASN.2006080833
P50
P577
2007-09-12T00:00:00Z