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Items: 1 to 20 of 139

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.

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.

3.

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

Björkman K, Sofou K, Darin N, Holme E, Kollberg G, Asin-Cayuela J, Holmberg Dahle KM, Oldfors A, Moslemi AR, Tulinius M.

Mitochondrion. 2015 Mar;21:33-40. doi: 10.1016/j.mito.2015.01.003. Epub 2015 Jan 20.

PMID:
25615419
4.

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.

5.

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
6.

Changes in Mitochondrial Morphology and Bioenergetics in Human Lymphoblastoid Cells With Four Novel OPA1 Mutations.

Kao SH, Yen MY, Wang AG, Yeh YL, Lin AL.

Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2269-78. doi: 10.1167/iovs.14-16288.

PMID:
25744979
7.

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
8.

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V.

Int J Biochem Cell Biol. 2015 Aug;65:91-103. doi: 10.1016/j.biocel.2015.05.017. Epub 2015 May 27.

PMID:
26024641
9.

Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.

Breuer ME, Willems PH, Smeitink JA, Koopman WJ, Nooteboom M.

IUBMB Life. 2013 Mar;65(3):202-8. doi: 10.1002/iub.1127. Epub 2013 Feb 3. Review.

10.

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Melcher M, Danhauser K, Seibt A, Degistirici Ö, Baertling F, Kondadi AK, Reichert AS, Koopman WJH, Willems PHGM, Rodenburg RJ, Mayatepek E, Meisel R, Distelmaier F.

Stem Cell Res Ther. 2017 Jun 24;8(1):150. doi: 10.1186/s13287-017-0601-7.

11.

Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation.

Fang H, Shi H, Li X, Sun D, Li F, Li B, Ding Y, Ma Y, Liu Y, Zhang Y, Shen L, Bai Y, Yang Y, Lu J.

Sci Rep. 2015 May 27;5:10480. doi: 10.1038/srep10480.

12.

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.

PMID:
14749350
13.

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.

14.

Mitochondrial complex I deficiency of nuclear origin I. Structural genes.

Pagniez-Mammeri H, Loublier S, Legrand A, Bénit P, Rustin P, Slama A.

Mol Genet Metab. 2012 Feb;105(2):163-72. doi: 10.1016/j.ymgme.2011.11.188. Epub 2011 Nov 18. Review.

PMID:
22142868
15.

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

Marin SE, Mesterman R, Robinson B, Rodenburg RJ, Smeitink J, Tarnopolsky MA.

Gene. 2013 Mar 1;516(1):162-7. doi: 10.1016/j.gene.2012.12.024. Epub 2012 Dec 22.

PMID:
23266820
16.

Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations.

Agier V, Oliviero P, Lainé J, L'Hermitte-Stead C, Girard S, Fillaut S, Jardel C, Bouillaud F, Bulteau AL, Lombès A.

Biochim Biophys Acta. 2012 Oct;1822(10):1570-80. doi: 10.1016/j.bbadis.2012.07.002. Epub 2012 Jul 16.

17.

Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease.

Forbes JM, Ke BX, Nguyen TV, Henstridge DC, Penfold SA, Laskowski A, Sourris KC, Groschner LN, Cooper ME, Thorburn DR, Coughlan MT.

Antioxid Redox Signal. 2013 Aug 1;19(4):331-43. doi: 10.1089/ars.2012.4719. Epub 2013 Mar 1.

PMID:
23320803
18.

Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.

Mathieu L, Costa AL, Le Bachelier C, Slama A, Lebre AS, Taylor RW, Bastin J, Djouadi F.

Free Radic Biol Med. 2016 Jul;96:190-8. doi: 10.1016/j.freeradbiomed.2016.04.027. Epub 2016 Apr 25.

PMID:
27126960
19.

Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.

Valsecchi F, Monge C, Forkink M, de Groof AJ, Benard G, Rossignol R, Swarts HG, van Emst-de Vries SE, Rodenburg RJ, Calvaruso MA, Nijtmans LG, Heeman B, Roestenberg P, Wieringa B, Smeitink JA, Koopman WJ, Willems PH.

Biochim Biophys Acta. 2012 Oct;1817(10):1925-36. doi: 10.1016/j.bbabio.2012.03.006. Epub 2012 Mar 11.

20.

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

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