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Items: 1 to 20 of 201

1.

Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.

Morán M, Rivera H, Sánchez-Aragó M, Blázquez A, Merinero B, Ugalde C, Arenas J, Cuezva JM, Martín MA.

Biochim Biophys Acta. 2010 May;1802(5):443-53. doi: 10.1016/j.bbadis.2010.02.001. Epub 2010 Feb 11.

2.

Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

Koopman WJ, Verkaart S, Visch HJ, van Emst-de Vries S, Nijtmans LG, Smeitink JA, Willems PH.

Am J Physiol Cell Physiol. 2007 Jul;293(1):C22-9. Epub 2007 Apr 11. Review.

3.

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.

Ugalde C, Janssen RJ, van den Heuvel LP, Smeitink JA, Nijtmans LG.

Hum Mol Genet. 2004 Mar 15;13(6):659-67. Epub 2004 Jan 28.

4.

Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy.

Ke BX, Pepe S, Grubb DR, Komen JC, Laskowski A, Rodda FA, Hardman BM, Pitt JJ, Ryan MT, Lazarou M, Koleff J, Cheung MM, Smolich JJ, Thorburn DR.

Proc Natl Acad Sci U S A. 2012 Apr 17;109(16):6165-70. doi: 10.1073/pnas.1113987109. Epub 2012 Apr 2.

5.

Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.

Blanchet L, Buydens MC, Smeitink JA, Willems PH, Koopman WJ.

Curr Pharm Des. 2011 Dec 1;17(36):4023-33. Review.

PMID:
22188452
6.

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.

Ferreira M, Torraco A, Rizza T, Fattori F, Meschini MC, Castana C, Go NE, Nargang FE, Duarte M, Piemonte F, Dionisi-Vici C, Videira A, Vilarinho L, Santorelli FM, Carrozzo R, Bertini E.

Neurogenetics. 2011 Feb;12(1):9-17. doi: 10.1007/s10048-010-0265-2. Epub 2011 Jan 4.

PMID:
21203893
7.

Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency.

Verkaart S, Koopman WJ, Cheek J, van Emst-de Vries SE, van den Heuvel LW, Smeitink JA, Willems PH.

Biochim Biophys Acta. 2007 Sep;1772(9):1041-51. Epub 2007 May 25.

8.

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.

Morán M, Marín-Buera L, Gil-Borlado MC, Rivera H, Blázquez A, Seneca S, Vázquez-López M, Arenas J, Martín MA, Ugalde C.

Hum Mutat. 2010 Aug;31(8):930-41. doi: 10.1002/humu.21294.

PMID:
20518024
9.

Mitochondrial dynamics in human NADH:ubiquinone oxidoreductase deficiency.

Willems PH, Smeitink JA, Koopman WJ.

Int J Biochem Cell Biol. 2009 Oct;41(10):1773-82. doi: 10.1016/j.biocel.2009.01.012. Epub 2009 Jan 28. Review.

PMID:
19703648
10.

Coenzyme Q deficiency triggers mitochondria degradation by mitophagy.

Rodríguez-Hernández A, Cordero MD, Salviati L, Artuch R, Pineda M, Briones P, Gómez Izquierdo L, Cotán D, Navas P, Sánchez-Alcázar JA.

Autophagy. 2009 Jan;5(1):19-32.

PMID:
19115482
11.

Mitochondrial bioenergetics and structural network organization.

Benard G, Bellance N, James D, Parrone P, Fernandez H, Letellier T, Rossignol R.

J Cell Sci. 2007 Mar 1;120(Pt 5):838-48. Epub 2007 Feb 13.

12.

Effect of thyroid hormone on mitochondrial properties and oxidative stress in cells from patients with mtDNA defects.

Menzies KJ, Robinson BH, Hood DA.

Am J Physiol Cell Physiol. 2009 Feb;296(2):C355-62. doi: 10.1152/ajpcell.00415.2007. Epub 2008 Nov 26.

13.

Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain.

Ricci JE, Muñoz-Pinedo C, Fitzgerald P, Bailly-Maitre B, Perkins GA, Yadava N, Scheffler IE, Ellisman MH, Green DR.

Cell. 2004 Jun 11;117(6):773-86.

14.

Modulation of mitochondrial morphology by bioenergetics defects in primary human fibroblasts.

Guillery O, Malka F, Frachon P, Milea D, Rojo M, Lombès A.

Neuromuscul Disord. 2008 Apr;18(4):319-30. doi: 10.1016/j.nmd.2007.12.008.

PMID:
18395446
15.

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes.

Bonnet C, Augustin S, Ellouze S, Bénit P, Bouaita A, Rustin P, Sahel JA, Corral-Debrinski M.

Biochim Biophys Acta. 2008 Oct;1783(10):1707-17. doi: 10.1016/j.bbamcr.2008.04.018. Epub 2008 May 6.

16.

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.

Iuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, Minuto M, Ripoli M, Capitanio N, Zeviani M, Papa S.

J Biol Chem. 2006 Apr 14;281(15):10374-80. Epub 2006 Feb 13.

17.

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA.

Brain. 2009 Apr;132(Pt 4):833-42. doi: 10.1093/brain/awp058. Epub 2009 Mar 31. Review.

18.

Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency.

Valsecchi F, Esseling JJ, Koopman WJ, Willems PH.

Biochim Biophys Acta. 2009 Dec;1792(12):1130-7. doi: 10.1016/j.bbadis.2009.01.001. Epub 2009 Jan 10. Review.

19.
20.

Secondary metabolic effects in complex I deficiency.

Esteitie N, Hinttala R, Wibom R, Nilsson H, Hance N, Naess K, Teär-Fahnehjelm K, von Döbeln U, Majamaa K, Larsson NG.

Ann Neurol. 2005 Oct;58(4):544-52.

PMID:
16044424
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