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Items: 1 to 20 of 82

1.

Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type.

Jaokar TM, Patil DP, Shouche YS, Gaikwad SM, Suresh CG.

Biochimie. 2013 Dec;95(12):2392-403. doi: 10.1016/j.biochi.2013.08.032. Epub 2013 Sep 10.

PMID:
24028823
2.

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.

3.

Unfolding a folding disease: folding, misfolding and aggregation of the marble brain syndrome-associated mutant H107Y of human carbonic anhydrase II.

Almstedt K, Lundqvist M, Carlsson J, Karlsson M, Persson B, Jonsson BH, Carlsson U, Hammarström P.

J Mol Biol. 2004 Sep 10;342(2):619-33.

PMID:
15327960
4.

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.

5.

Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.

Vogel RO, Dieteren CE, van den Heuvel LP, Willems PH, Smeitink JA, Koopman WJ, Nijtmans LG.

J Biol Chem. 2007 Mar 9;282(10):7582-90. Epub 2007 Jan 5.

6.

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.

7.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A.

J Med Genet. 2003 Mar;40(3):188-91.

8.

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

Leshinsky-Silver E, Shuvalov R, Inbar S, Cohen S, Lev D, Lerman-Sagie T.

J Child Neurol. 2011 Apr;26(4):476-81. doi: 10.1177/0883073810384615. Epub 2010 Dec 31.

PMID:
21196529
9.

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ.

J Med Genet. 2007 Apr;44(4):e74.

10.

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
11.

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
12.

Thermodynamics of the unfolding and spectroscopic properties of the V66W mutant of Staphylococcal nuclease and its 1-136 fragment.

Eftink MR, Ionescu R, Ramsay GD, Wong CY, Wu JQ, Maki AH.

Biochemistry. 1996 Jun 18;35(24):8084-94.

PMID:
8672513
13.

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.

14.

Conformational characterization of human eukaryotic initiation factor 2alpha: a single tryptophan protein.

Sreejith RK, Yadav VN, Varshney NK, Berwal SK, Suresh CG, Gaikwad SM, Pal JK.

Biochem Biophys Res Commun. 2009 Dec 11;390(2):273-9. doi: 10.1016/j.bbrc.2009.09.106. Epub 2009 Oct 1.

PMID:
19800319
15.

Molten globule of hemoglobin proceeds into aggregates and advanced glycated end products.

Iram A, Alam T, Khan JM, Khan TA, Khan RH, Naeem A.

PLoS One. 2013 Aug 26;8(8):e72075. doi: 10.1371/journal.pone.0072075. eCollection 2013.

16.

Acid and thermal unfolding of Escherichia coli dihydrofolate reductase.

Ohmae E, Kurumiya T, Makino S, Gekko K.

J Biochem. 1996 Nov;120(5):946-53.

17.

Quaternary structure of Dictyostelium discoideum nucleoside diphosphate kinase counteracts the tendency of monomers to form a molten globule.

Cervoni L, Egistelli L, Mocan I, Giartosio A, Lascu I.

Biochemistry. 2003 Dec 16;42(49):14599-605.

PMID:
14661972
18.

Functional and conformational transitions of mevalonate diphosphate decarboxylase from Bacopa monniera.

Abbassi S, Patel K, Khan B, Bhosale S, Gaikwad S.

Int J Biol Macromol. 2016 Feb;83:160-70. doi: 10.1016/j.ijbiomac.2015.11.067. Epub 2015 Dec 2.

PMID:
26657583
19.

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
20.

Ligand-induced conformational changes in wild-type and mutant yeast pyruvate kinase.

Collins RA, Kelly SM, Price NC, Fothergill-Gilmore LA, Muirhead H.

Protein Eng. 1996 Dec;9(12):1203-10.

PMID:
9010934

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