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Mitochondrial CardiomyopathiesCoQ10 Deficiency May Indicate Mitochondrial Dysfunction in Cr(VI) Toxicity.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryCOQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.Early-onset of ADCK4 glomerulopathy with renal failure: a case report.ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGSFocal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.Molecular diagnosis of coenzyme Q10 deficiency.Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.Biochemical Assessment of Coenzyme Q10 Deficiency.Reversal of oxidative stress-induced apoptosis in T and B lymphocytes by Coenzyme Q10 (CoQ10).Balanced CoQ6 biosynthesis is required for lifespan and mitophagy in yeast.A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Chromatin-remodeling SWI/SNF complex regulates coenzyme Q6 synthesis and a metabolic shift to respiration in yeast.Mechanistic insights into the catalytic reaction of ferulic acid decarboxylase from Aspergillus niger: a QM/MM study.Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.Hearing loss and renal syndromes.ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings.Coenzyme Q10 Supplementation in Aging and Disease.RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of COQ7.A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Genetics of coenzyme q10 deficiency.
@en
type
label
Genetics of coenzyme q10 deficiency.
@en
prefLabel
Genetics of coenzyme q10 deficiency.
@en
P2093
P2860
P356
P1476
Genetics of coenzyme q10 deficiency.
@en
P2093
Cristina Cerqua
Eva Trevisson
Leonardo Salviati
Mara Doimo
Maria A Desbats
P2860
P304
P356
10.1159/000362826
P577
2014-07-01T00:00:00Z