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Page 1
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Desbats MA, et al. J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5. J Inherit Metab Dis. 2015. PMID: 25091424 Review.
Coenzyme Q(10) is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial respiratory chain (RC), beta-oxidation of fatty acids, and pyrimidine biosynthesis, but it is also one of the main cellular antioxidan …
Coenzyme Q(10) is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial r …
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M. Tasic V, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015. PMID: 27442391 Free article. Review.
The discovery of 39 dominant or recessive SRNS genes enabled better understanding of the function of the glomerular podocytes and slit membrane. Hildebrandt's group has shown that 85% of the SRNS cases with onset by 3 months of age and 66% with onset by 1 year of age can b …
The discovery of 39 dominant or recessive SRNS genes enabled better understanding of the function of the glomerular podocytes and sli …
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.
Acosta Lopez MJ, Trevisson E, Canton M, Vazquez-Fonseca L, Morbidoni V, Baschiera E, Frasson C, Pelosi L, Rascalou B, Desbats MA, Alcázar-Fabra M, Ríos JJ, Sánchez-García A, Basso G, Navas P, Pierrel F, Brea-Calvo G, Salviati L. Acosta Lopez MJ, et al. Oxid Med Cell Longev. 2019 Jul 10;2019:3904905. doi: 10.1155/2019/3904905. eCollection 2019. Oxid Med Cell Longev. 2019. PMID: 31379988 Free PMC article.
It is an electron carrier in the mitochondrial respiratory chain, a cofactor of other mitochondrial dehydrogenases, and an essential antioxidant. ...We have previously shown using a yeast model that vanillic acid (VA) can bypass mutations of COQ6, a monoox …
It is an electron carrier in the mitochondrial respiratory chain, a cofactor of other mitochondrial dehydrogenases, and an ess …
Is there a link between COQ6 and schwannomatosis?
Trevisson E, Clementi M, Salviati L. Trevisson E, et al. Genet Med. 2015 Apr;17(4):312-3. doi: 10.1038/gim.2014.211. Genet Med. 2015. PMID: 25835193 Free article. No abstract available.
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Kidney Int. 2022 Sep;102(3):592-603. doi: 10.1016/j.kint.2022.02.040. Epub 2022 Apr 26. Kidney Int. 2022. PMID: 35483523 Free article.
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. ...Kidney disease was first …
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resis …
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.
Doimo M, Trevisson E, Airik R, Bergdoll M, Santos-Ocaña C, Hildebrandt F, Navas P, Pierrel F, Salviati L. Doimo M, et al. Biochim Biophys Acta. 2014 Jan;1842(1):1-6. doi: 10.1016/j.bbadis.2013.10.007. Epub 2013 Oct 18. Biochim Biophys Acta. 2014. PMID: 24140869 Free PMC article.
Human COQ6 encodes a monooxygenase which is responsible for the C5-hydroxylation of the quinone ring of coenzyme Q (CoQ). ...We employed S. cerevisiae lacking the orthologous gene to characterize the two different human COQ6 isoforms and the mutations …
Human COQ6 encodes a monooxygenase which is responsible for the C5-hydroxylation of the quinone ring of coenzyme Q (CoQ …
New Mutation of Coenzyme Q(10) Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient.
Song CC, Hong Q, Geng XD, Wang X, Wang SQ, Cui SY, Guo MD, Li O, Cai GY, Chen XM, Wu D. Song CC, et al. Chin Med J (Engl). 2018 Nov 20;131(22):2666-2675. doi: 10.4103/0366-6999.245158. Chin Med J (Engl). 2018. PMID: 30425193 Free PMC article.
The patient's total blood RNA was extracted to validate the messenger RNA (mRNA) expression of coenzyme Q(10) monooxygenase 6 (COQ6) and validated it by immunohistochemistry. ...Cell apoptosis was evaluated by flow cytometry, the expression of active c …
The patient's total blood RNA was extracted to validate the messenger RNA (mRNA) expression of coenzyme Q(10) monooxygenase …
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schreuder MF, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Liu C, Sun S, Deng F, Wang X, Clavé S, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Kidney Int. 2022 Sep;102(3):604-612. doi: 10.1016/j.kint.2022.04.029. Epub 2022 May 25. Kidney Int. 2022. PMID: 35643375 Free article.
Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. ...Complete remission of proteinuria was mo …
Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynth …
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F. Heeringa SF, et al. J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11. J Clin Invest. 2011. PMID: 21540551 Free PMC article.
Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in coenzyme Q10 …
Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechan …
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
Yuruk Yildirim Z, Toksoy G, Uyguner O, Nayir A, Yavuz S, Altunoglu U, Turkkan ON, Sevinc B, Gokcay G, Kurkcu Gunes D, Kiyak A, Yilmaz A. Yuruk Yildirim Z, et al. Eur J Med Genet. 2020 Jan;63(1):103621. doi: 10.1016/j.ejmg.2019.01.011. Epub 2019 Jan 22. Eur J Med Genet. 2020. PMID: 30682496
Primary coenzyme Q10 deficiency-6 (COQ10D6) is a rare autosomal recessive disorder caused by COQ6 mutations. ...Family segregation and the co-occurrence of biallelic p.Arg174 of COQ8B in a brother with hearing loss implied that the interaction of the altered …
Primary coenzyme Q10 deficiency-6 (COQ10D6) is a rare autosomal recessive disorder caused by COQ6 mutations. ...Family …
31 results