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  • Author: Trevisson E
  • References

Author: Trevisson E


References 20 references


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  • Calderan C, et al. (2024) A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. Eur J Hum Genet 32(7):804-812 PMID:38486025
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Cerqua C, et al. (2019) Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells. Sci Rep 9(1):6553 PMID:31024065
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Cerqua C, et al. (2018) COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2. Biochim Biophys Acta Bioenerg 1859(4):244-252 PMID:29355485
    • SGD Paper
    • DOI full text
    • PubMed
  • Vazquez Fonseca L, et al. (2018) Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function. Hum Mutat 39(3):406-414 PMID:29194833
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Gigante M, et al. (2017) Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants. Clin Genet 92(2):224-226 PMID:28044327
    • SGD Paper
    • DOI full text
    • PubMed
  • Acosta MJ, et al. (2016) Coenzyme Q biosynthesis in health and disease. Biochim Biophys Acta 1857(8):1079-1085 PMID:27060254
    • SGD Paper
    • DOI full text
    • PubMed
  • Desbats MA, et al. (2016) The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. Hum Mol Genet 25(19):4256-4265 PMID:27493029
    • SGD Paper
    • DOI full text
    • PubMed
  • Doimo M, et al. (2016) Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans. JIMD Rep 28:119-126 PMID:26589310
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Desbats MA, et al. (2015) Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. Eur J Hum Genet 23(9):1254-8 PMID:25564041
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Doimo M, et al. (2014) Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. Biochim Biophys Acta 1842(1):1-6 PMID:24140869
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Nguyen TP, et al. (2014) Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. Biochim Biophys Acta 1841(11):1628-38 PMID:25152161
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Doimo M, et al. (2013) Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. Hum Mutat 34(1):229-36 PMID:23076989
    • SGD Paper
    • DOI full text
    • PubMed
  • Salviati L, et al. (2012) Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet 49(3):187-91 PMID:22368301
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Heeringa SF, et al. (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 121(5):2013-24 PMID:21540551
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Horn D, et al. (2010) The conserved mitochondrial twin Cx9C protein Cmc2 Is a Cmc1 homologue essential for cytochrome c oxidase biogenesis. J Biol Chem 285(20):15088-15099 PMID:20220131
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Casarin A, et al. (2008) Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. Biochem Biophys Res Commun 372(1):35-9 PMID:18474229
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Dimmer KS, et al. (2008) LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability. Hum Mol Genet 17(2):201-14 PMID:17925330
    • SGD Paper
    • DOI full text
    • PubMed
  • López-Martín JM, et al. (2007) Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet 16(9):1091-7 PMID:17374725
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Quinzii C, et al. (2006) A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 78(2):345-9 PMID:16400613
    • SGD Paper
    • DOI full text
    • PMC full text
    • PubMed
  • Sacconi S, et al. (2005) hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. Biochem Biophys Res Commun 337(3):832-9 PMID:16212937
    • SGD Paper
    • DOI full text
    • PubMed
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