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Items: 1 to 20 of 93

1.

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice.

Falk MJ, Polyak E, Zhang Z, Peng M, King R, Maltzman JS, Okwuego E, Horyn O, Nakamaru-Ogiso E, Ostrovsky J, Xie LX, Chen JY, Marbois B, Nissim I, Clarke CF, Gasser DL.

EMBO Mol Med. 2011 Jul;3(7):410-27. doi: 10.1002/emmm.201100149. Epub 2011 Jun 8.

2.

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.

Peng M, Falk MJ, Haase VH, King R, Polyak E, Selak M, Yudkoff M, Hancock WW, Meade R, Saiki R, Lunceford AL, Clarke CF, Gasser DL.

PLoS Genet. 2008 Apr 25;4(4):e1000061. doi: 10.1371/journal.pgen.1000061.

3.

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.

Quinzii CM, Garone C, Emmanuele V, Tadesse S, Krishna S, Dorado B, Hirano M.

FASEB J. 2013 Feb;27(2):612-21. doi: 10.1096/fj.12-209361. Epub 2012 Nov 12.

4.

Coenzyme Q10 supplementation rescues renal disease in Pdss2kd/kd mice with mutations in prenyl diphosphate synthase subunit 2.

Saiki R, Lunceford AL, Shi Y, Marbois B, King R, Pachuski J, Kawamukai M, Gasser DL, Clarke CF.

Am J Physiol Renal Physiol. 2008 Nov;295(5):F1535-44. doi: 10.1152/ajprenal.90445.2008. Epub 2008 Sep 10.

5.

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.

López LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M.

Am J Hum Genet. 2006 Dec;79(6):1125-9. Epub 2006 Oct 27.

6.

Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice.

Ziegler CG, Peng M, Falk MJ, Polyak E, Tsika E, Ischiropoulos H, Bakalar D, Blendy JA, Gasser DL.

Mitochondrion. 2012 Mar;12(2):248-57. doi: 10.1016/j.mito.2011.09.011. Epub 2011 Oct 1.

7.

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L.

J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5. Review.

PMID:
25091424
8.

Combined effect of probucol and insulin on renal damage in diabetic rats fed a high cholesterol diet.

Yoshida M, Kimura H, Kyuki K, Ito M.

Eur J Pharmacol. 2006 Oct 24;548(1-3):174-80. Epub 2006 Aug 22.

PMID:
16979162
9.

Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood.

Lu S, Lu LY, Liu MF, Yuan QJ, Sham MH, Guan XY, Huang JD.

Neurobiol Dis. 2012 Jan;45(1):219-33. doi: 10.1016/j.nbd.2011.08.006. Epub 2011 Aug 10.

PMID:
21871565
10.

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;18(10):2773-80. Epub 2007 Sep 12.

11.
12.

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.

Quinzii CM, López LC, Von-Moltke J, Naini A, Krishna S, Schuelke M, Salviati L, Navas P, DiMauro S, Hirano M.

FASEB J. 2008 Jun;22(6):1874-85. doi: 10.1096/fj.07-100149. Epub 2008 Jan 29.

13.
14.

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

Quinzii CM, López LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C, Schuelke M, Salviati L, Carrozzo R, Santorelli F, Rahman S, Tazir M, Koenig M, DiMauro S, Hirano M.

FASEB J. 2010 Oct;24(10):3733-43. doi: 10.1096/fj.09-152728. Epub 2010 May 21.

15.

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 1;16(9):1091-7. Epub 2007 Mar 20.

16.

Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy.

Zhang Z, Gasser DL, Rappaport EF, Falk MJ.

Mol Genet Metab. 2010 Mar;99(3):309-18. doi: 10.1016/j.ymgme.2009.10.179. Epub 2009 Oct 30.

17.

Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.

Duberley KE, Abramov AY, Chalasani A, Heales SJ, Rahman S, Hargreaves IP.

J Inherit Metab Dis. 2013 Jan;36(1):63-73. doi: 10.1007/s10545-012-9511-0. Epub 2012 Jul 6.

PMID:
22767283
18.
19.

Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.

Gasser DL, Winkler CA, Peng M, An P, McKenzie LM, Kirk GD, Shi Y, Xie LX, Marbois BN, Clarke CF, Kopp JB.

Am J Physiol Renal Physiol. 2013 Oct 15;305(8):F1228-38. doi: 10.1152/ajprenal.00143.2013. Epub 2013 Aug 7.

20.

Effects of probucol on renal function and urinary protein excretion in spontaneously hypercholesterolemic rats fed a normal or high cholesterol diet.

Nakao A, Nosaka K, Imaki H, Noiri E, Toda A, Doi K, Suzuki Y, Fujita T, Kimura S.

Kidney Blood Press Res. 2004;27(2):96-104. Epub 2004 Feb 6.

PMID:
14764942
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