ArticleHuman mutation2018
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 50 citations in OpenAlex.
- Congenital and infantile nephrotic syndrome: genotype-phenotype associations.Pediatric research · 2026Article
- Emerging genetic mechanisms of glomerular proteinuria: a podocyte-centered multi-layer network perspective.Frontiers in genetics · 2026Review
- Clinical follow-up of 2 families with glomerulopathy caused byFrontiers in pediatrics · 2024Article
- Identification of a common polymorphism inHGG advances · 2022Article
- Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients withBioMed research international · 2022Article
- Clinical features and gene variation analysis of COQ8B nephropathy: Report of seven cases.Frontiers in pediatrics · 2022Article
- Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2021Review
- Cellular Models for Primary CoQ Deficiency Pathogenesis Study.International journal of molecular sciences · 2021Review
- New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQJournal of neurology · 2021Article
- Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.Scientific reports · 2021Article
- Article
- The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases.Genes · 2021Review
- Mitochondrial Disease and the Kidney With a Special Focus on CoQKidney international reports · 2020Review
- Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.BMC nephrology · 2020Review
- A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes.BMC nephrology · 2020Article
- Absence of Long Noncoding RNA H19 Promotes Childhood Nephrotic Syndrome through Inhibiting ADCK4 Signal.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.Journal of the American Society of Nephrology : JASN · 2020Article
- Article
- The Paradox of Coenzyme QNutrients · 2019Review
- Article
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Authors and funding
13 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralog genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). We have found that COQ8B is a mitochondrial matrix protein peripherally associated with the inner membrane. COQ8B can complement a ΔCOQ8 yeast strain when its mitochondrial targeting sequence (MTS) is replaced by a yeast MTS. This model was employed to validate COQ8B mutations, and to establish genotype-phenotype correlations. All mutations affected respiratory growth, but there was no correlation between mutation type and the severity of the phenotype. In fact, contrary to the case of COQ2, where residual CoQ biosynthesis correlates with clinical severity, patients harboring hypomorphic COQ8B alleles did not display a different phenotype compared with those with null mutations. These data also suggest that the system is redundant, and that other proteins (probably COQ8A) may partially compensate for the absence of COQ8B. Finally, a COQ8B polymorphism, present in 50% of the European population (NM_024876.3:c.521A > G, p.His174Arg), affects stability of the protein and could represent a risk factor for secondary CoQ deficiencies or for other complex traits.
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