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Journal Abstract Search

265 related items for PubMed ID: 28428331

  • 1. A Personalized Model of COQ2 Nephropathy Rescued by the Wild-Type COQ2 Allele or Dietary Coenzyme Q10 Supplementation.
    Zhu JY, Fu Y, Richman A, Zhao Z, Ray PE, Han Z.
    J Am Soc Nephrol; 2017 Sep; 28(9):2607-2617. PubMed ID: 28428331
    [Abstract] [Full Text] [Related]

  • 2. Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte.
    Hermle T, Braun DA, Helmstädter M, Huber TB, Hildebrandt F.
    J Am Soc Nephrol; 2017 May; 28(5):1521-1533. PubMed ID: 27932481
    [Abstract] [Full Text] [Related]

  • 3. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
    Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C.
    Pediatr Nephrol; 2018 Jul; 33(7):1257-1261. PubMed ID: 29637272
    [Abstract] [Full Text] [Related]

  • 4. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).
    Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L.
    Eur J Paediatr Neurol; 2013 Nov; 17(6):625-30. PubMed ID: 23816342
    [Abstract] [Full Text] [Related]

  • 5. [Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review].
    Xu K, Mao XY, Yao Y, Cheng H, Zhang XJ.
    Zhonghua Er Ke Za Zhi; 2018 Sep 02; 56(9):662-666. PubMed ID: 30180404
    [Abstract] [Full Text] [Related]

  • 6. A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.
    Fu Y, Zhu JY, Richman A, Zhao Z, Zhang F, Ray PE, Han Z.
    Hum Mol Genet; 2017 Feb 15; 26(4):768-780. PubMed ID: 28164240
    [Abstract] [Full Text] [Related]

  • 7. CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway.
    Kleiner G, Barca E, Ziosi M, Emmanuele V, Xu Y, Hidalgo-Gutierrez A, Qiao C, Tadesse S, Area-Gomez E, Lopez LC, Quinzii CM.
    Biochim Biophys Acta Mol Basis Dis; 2018 Nov 15; 1864(11):3708-3722. PubMed ID: 30251690
    [Abstract] [Full Text] [Related]

  • 8. COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.
    Li M, Yue Z, Lin H, Wang H, Chen H, Sun L.
    Ren Fail; 2021 Dec 15; 43(1):97-101. PubMed ID: 33397173
    [Abstract] [Full Text] [Related]

  • 9. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
    Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.
    J Clin Invest; 2013 Dec 15; 123(12):5179-89. PubMed ID: 24270420
    [Abstract] [Full Text] [Related]

  • 10. Suppression of coenzyme Q₁₀ levels and the induction of multiple PDSS and COQ genes in human cells following oligomycin treatment.
    Yen HC, Liu CC, Kan CC, Chen CS, Wei HR.
    Free Radic Res; 2014 Sep 15; 48(9):1125-34. PubMed ID: 25002068
    [Abstract] [Full Text] [Related]

  • 11. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
    Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F.
    J Am Soc Nephrol; 2007 Oct 15; 18(10):2773-80. PubMed ID: 17855635
    [Abstract] [Full Text] [Related]

  • 12. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
    Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rötig A.
    J Clin Invest; 2007 Mar 15; 117(3):765-72. PubMed ID: 17332895
    [Abstract] [Full Text] [Related]

  • 13. Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
    López-Martín JM, Salviati L, Trevisson E, Montini G, DiMauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sánchez-Alcázar JA, Santos-Ocaña C, Navas P.
    Hum Mol Genet; 2007 May 01; 16(9):1091-7. PubMed ID: 17374725
    [Abstract] [Full Text] [Related]

  • 14. 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.
    Kidney Int; 2022 Sep 01; 102(3):604-612. PubMed ID: 35643375
    [Abstract] [Full Text] [Related]

  • 15. Engineering of ubiquinone biosynthesis using the yeast coq2 gene confers oxidative stress tolerance in transgenic tobacco.
    Ohara K, Kokado Y, Yamamoto H, Sato F, Yazaki K.
    Plant J; 2004 Dec 01; 40(5):734-43. PubMed ID: 15546356
    [Abstract] [Full Text] [Related]

  • 16. A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.
    Wu X, Wang W, Liu Y, Chen W, Zhao L.
    BMC Med Genet; 2019 Oct 28; 20(1):165. PubMed ID: 31660881
    [Abstract] [Full Text] [Related]

  • 17. Clinical spectrum in multiple families with primary COQ10 deficiency.
    Hashemi SS, Zare-Abdollahi D, Bakhshandeh MK, Vafaee A, Abolhasani S, Inanloo Rahatloo K, DanaeeFard F, Farboodi N, Rohani M, Alavi A.
    Am J Med Genet A; 2021 Feb 28; 185(2):440-452. PubMed ID: 33215859
    [Abstract] [Full Text] [Related]

  • 18. Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy.
    Mitsui J, Matsukawa T, Yasuda T, Ishiura H, Tsuji S.
    JAMA Neurol; 2016 Aug 01; 73(8):977-80. PubMed ID: 27356913
    [Abstract] [Full Text] [Related]

  • 19. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
    Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L.
    Eur J Hum Genet; 2015 Sep 01; 23(9):1254-8. PubMed ID: 25564041
    [Abstract] [Full Text] [Related]

  • 20. The suppressive effect of dietary coenzyme Q10 on mitochondrial reactive oxygen species production and oxidative stress in chickens exposed to heat stress.
    Kikusato M, Nakamura K, Mikami Y, Mujahid A, Toyomizu M.
    Anim Sci J; 2016 Oct 01; 87(10):1244-1251. PubMed ID: 26707541
    [Abstract] [Full Text] [Related]

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