Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 179

1.

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;117(3):765-72.

PMID:
17332895
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A.

Am J Hum Genet. 2008 Mar;82(3):623-30. doi: 10.1016/j.ajhg.2007.12.022.

PMID:
18319072
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M.

Am J Hum Genet. 2006 Feb;78(2):345-9. Epub 2005 Dec 22.

PMID:
16400613
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Infantile and pediatric quinone deficiency diseases.

Rötig A, Mollet J, Rio M, Munnich A.

Mitochondrion. 2007 Jun;7 Suppl:S112-21. Epub 2007 Mar 16. Review.

PMID:
17442627
[PubMed - indexed for MEDLINE]
5.

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. doi: 10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28.

PMID:
23816342
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
17374725
[PubMed - indexed for MEDLINE]
Free Article
7.

Functional characterization of OsPPT1, which encodes p-hydroxybenzoate polyprenyltransferase involved in ubiquinone biosynthesis in Oryza sativa.

Ohara K, Yamamoto K, Hamamoto M, Sasaki K, Yazaki K.

Plant Cell Physiol. 2006 May;47(5):581-90. Epub 2006 Feb 24.

PMID:
16501255
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
17855635
[PubMed - indexed for MEDLINE]
Free Article
9.

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;40(5):734-43.

PMID:
15546356
[PubMed - indexed for MEDLINE]
10.

COQ2 is a candidate for the structural gene encoding para-hydroxybenzoate:polyprenyltransferase.

Ashby MN, Kutsunai SY, Ackerman S, Tzagoloff A, Edwards PA.

J Biol Chem. 1992 Feb 25;267(6):4128-36.

PMID:
1740455
[PubMed - indexed for MEDLINE]
Free Article
11.

Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.

Forsgren M, Attersand A, Lake S, Grünler J, Swiezewska E, Dallner G, Climent I.

Biochem J. 2004 Sep 1;382(Pt 2):519-26.

PMID:
15153069
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
17186472
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

Biochim Biophys Acta. 2014 Jan;1842(1):1-6. doi: 10.1016/j.bbadis.2013.10.007. Epub 2013 Oct 18.

PMID:
24140869
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Blood mononuclear cell coenzyme Q10 concentration and mitochondrial respiratory chain succinate cytochrome-c reductase activity in phenylketonuric patients.

Hargreaves IP, Heales SJ, Briddon A, Land JM, Lee PJ.

J Inherit Metab Dis. 2002 Dec;25(8):673-9.

PMID:
12705497
[PubMed - indexed for MEDLINE]
15.

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

Aeby A, Sznajer Y, Cavé H, Rebuffat E, Van Coster R, Rigal O, Van Bogaert P.

J Inherit Metab Dis. 2007 Oct;30(5):827. Epub 2007 Aug 20.

PMID:
17703371
[PubMed - indexed for MEDLINE]
16.

Drosophila sbo regulates lifespan through its function in the synthesis of coenzyme Q in vivo.

Liu J, Wu Q, He D, Ma T, Du L, Dui W, Guo X, Jiao R.

J Genet Genomics. 2011 Jun 20;38(6):225-34. doi: 10.1016/j.jgg.2011.05.002. Epub 2011 May 14.

PMID:
21703546
[PubMed - indexed for MEDLINE]
17.

Coq10, a mitochondrial coenzyme Q binding protein, is required for proper respiration in Schizosaccharomyces pombe.

Cui TZ, Kawamukai M.

FEBS J. 2009 Feb;276(3):748-59. doi: 10.1111/j.1742-4658.2008.06821.x. Epub 2008 Dec 22.

PMID:
19120452
[PubMed - indexed for MEDLINE]
18.

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.

Montero R, Pineda M, Aracil A, Vilaseca MA, Briones P, Sánchez-Alcázar JA, Navas P, Artuch R.

Cerebellum. 2007;6(2):118-22. Review.

PMID:
17510911
[PubMed - indexed for MEDLINE]
19.

Genetic evidence for a multi-subunit complex in coenzyme Q biosynthesis in yeast and the role of the Coq1 hexaprenyl diphosphate synthase.

Gin P, Clarke CF.

J Biol Chem. 2005 Jan 28;280(4):2676-81. Epub 2004 Nov 17.

PMID:
15548532
[PubMed - indexed for MEDLINE]
Free Article
20.

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M.

Am J Hum Genet. 2008 Mar;82(3):661-72. doi: 10.1016/j.ajhg.2007.12.024.

PMID:
18319074
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk