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Results: 1 to 20 of 161

1.

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

Ngu LH, Nijtmans LG, Distelmaier F, Venselaar H, van Emst-de Vries SE, van den Brand MA, Stoltenborg BJ, Wintjes LT, Willems PH, van den Heuvel LP, Smeitink JA, Rodenburg RJ.

Biochim Biophys Acta. 2012 Feb;1822(2):168-75. doi: 10.1016/j.bbadis.2011.10.012. Epub 2011 Oct 20.

PMID:
22036843
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
3.

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

Martín MA, Blázquez A, Gutierrez-Solana LG, Fernández-Moreira D, Briones P, Andreu AL, Garesse R, Campos Y, Arenas J.

Arch Neurol. 2005 Apr;62(4):659-61.

PMID:
15824269
[PubMed - indexed for MEDLINE]
4.

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW.

Brain. 2010 Oct;133(10):2952-63. doi: 10.1093/brain/awq232. Epub 2010 Sep 6.

PMID:
20819849
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.

Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P.

J Med Genet. 2004 Jan;41(1):14-7.

PMID:
14729820
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

Ugalde C, Hinttala R, Timal S, Smeets R, Rodenburg RJ, Uusimaa J, van Heuvel LP, Nijtmans LG, Majamaa K, Smeitink JA.

Mol Genet Metab. 2007 Jan;90(1):10-4. Epub 2006 Sep 22.

PMID:
16996290
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
19036942
[PubMed - indexed for MEDLINE]
Free Article
8.

NDUFA2 complex I mutation leads to Leigh disease.

Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP.

Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007.

PMID:
18513682
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

Assouline Z, Jambou M, Rio M, Bole-Feysot C, de Lonlay P, Barnerias C, Desguerre I, Bonnemains C, Guillermet C, Steffann J, Munnich A, Bonnefont JP, Rötig A, Lebre AS.

Biochim Biophys Acta. 2012 Jun;1822(6):1062-9. doi: 10.1016/j.bbadis.2012.01.013. Epub 2012 Feb 3.

PMID:
22326555
[PubMed - indexed for MEDLINE]
Free Article
10.

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng SW, Graham BH, Wong LJ.

Mol Genet Metab. 2008 Aug;94(4):485-90. doi: 10.1016/j.ymgme.2008.04.004. Epub 2008 May 20.

PMID:
18495510
[PubMed - indexed for MEDLINE]
11.

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.

Lebon S, Minai L, Chretien D, Corcos J, Serre V, Kadhom N, Steffann J, Pauchard JY, Munnich A, Bonnefont JP, Rötig A.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):104-8. Epub 2007 Jun 28.

PMID:
17604671
[PubMed - indexed for MEDLINE]
12.

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP.

Eur J Hum Genet. 2011 Mar;19(3):270-4. doi: 10.1038/ejhg.2010.204. Epub 2010 Dec 8.

PMID:
21150889
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.

Pätsi J, Maliniemi P, Pakanen S, Hinttala R, Uusimaa J, Majamaa K, Nyström T, Kervinen M, Hassinen IE.

Biochim Biophys Acta. 2012 Feb;1817(2):312-8. doi: 10.1016/j.bbabio.2011.10.014. Epub 2011 Nov 4.

PMID:
22079202
[PubMed - indexed for MEDLINE]
Free Article
14.

Reconstruction of a human mitochondrial complex I mutation in the unicellular green alga Chlamydomonas.

Larosa V, Coosemans N, Motte P, Bonnefoy N, Remacle C.

Plant J. 2012 Jun;70(5):759-68. doi: 10.1111/j.1365-313X.2012.04912.x. Epub 2012 Mar 8.

PMID:
22268373
[PubMed - indexed for MEDLINE]
15.

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

Lebon S, Rodriguez D, Bridoux D, Zerrad A, Rötig A, Munnich A, Legrand A, Slama A.

Mol Genet Metab. 2007 Apr;90(4):379-82. Epub 2007 Feb 1.

PMID:
17275378
[PubMed - indexed for MEDLINE]
16.

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

Gerards M, Sluiter W, van den Bosch BJ, de Wit LE, Calis CM, Frentzen M, Akbari H, Schoonderwoerd K, Scholte HR, Jongbloed RJ, Hendrickx AT, de Coo IF, Smeets HJ.

J Med Genet. 2010 Aug;47(8):507-12. doi: 10.1136/jmg.2009.067553. Epub 2009 Jun 18.

PMID:
19542079
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rötig A.

Am J Hum Genet. 2001 Jun;68(6):1344-52. Epub 2001 May 7.

PMID:
11349233
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.

Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S.

J Med Genet. 2011 Oct;48(10):691-7. doi: 10.1136/jmedgenet-2011-100340.

PMID:
21931170
[PubMed - indexed for MEDLINE]
19.

Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.

Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Zhang Y, Song JQ, Wang YJ, Yang YL.

Mitochondrial DNA. 2013 Feb;24(1):67-73. doi: 10.3109/19401736.2012.717932. Epub 2012 Sep 5.

PMID:
22947169
[PubMed - indexed for MEDLINE]
20.

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene.

Leong DW, Komen JC, Hewitt CA, Arnaud E, McKenzie M, Phipson B, Bahlo M, Laskowski A, Kinkel SA, Davey GM, Heath WR, Voss AK, Zahedi RP, Pitt JJ, Chrast R, Sickmann A, Ryan MT, Smyth GK, Thorburn DR, Scott HS.

J Biol Chem. 2012 Jun 8;287(24):20652-63. doi: 10.1074/jbc.M111.327601. Epub 2012 Apr 25.

PMID:
22535952
[PubMed - indexed for MEDLINE]
Free PMC Article

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