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Results: 1 to 20 of 120

1.

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA.

Hum Mol Genet. 2014 Jul 9. pii: ddu357. [Epub ahead of print]

PMID:
25008109
[PubMed - as supplied by publisher]
2.

MPV17L2 is required for ribosome assembly in mitochondria.

Dalla Rosa I, Durigon R, Pearce SF, Rorbach J, Hirst EM, Vidoni S, Reyes A, Brea-Calvo G, Minczuk M, Woellhaf MW, Herrmann JM, Huynen MA, Holt IJ, Spinazzola A.

Nucleic Acids Res. 2014 Sep 1;42(13):8500-15. doi: 10.1093/nar/gku513. Epub 2014 Jun 19.

PMID:
24948607
[PubMed - in process]
Free PMC Article
3.

The symbiotic intestinal ciliates and the evolution of their hosts.

Moon-van der Staay SY, van der Staay GW, Michalowski T, Jouany JP, Pristas P, Javorský P, Kišidayová S, Varadyova Z, McEwan NR, Newbold CJ, van Alen T, de Graaf R, Schmid M, Huynen MA, Hackstein JH.

Eur J Protistol. 2014 Apr;50(2):166-73. doi: 10.1016/j.ejop.2014.01.004. Epub 2014 Jan 31.

PMID:
24703617
[PubMed - indexed for MEDLINE]
4.

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR.

PLoS Genet. 2013 Dec;9(12):e1004034. doi: 10.1371/journal.pgen.1004034. Epub 2013 Dec 26.

PMID:
24385928
[PubMed - in process]
Free PMC Article
5.

Human intellectual disability genes form conserved functional modules in Drosophila.

Oortveld MA, Keerthikumar S, Oti M, Nijhof B, Fernandes AC, Kochinke K, Castells-Nobau A, van Engelen E, Ellenkamp T, Eshuis L, Galy A, van Bokhoven H, Habermann B, Brunner HG, Zweier C, Verstreken P, Huynen MA, Schenck A.

PLoS Genet. 2013 Oct;9(10):e1003911. doi: 10.1371/journal.pgen.1003911. Epub 2013 Oct 31.

PMID:
24204314
[PubMed - in process]
Free PMC Article
6.

Genome evolution predicts genetic interactions in protein complexes and reveals cancer drug targets.

Lu X, Kensche PR, Huynen MA, Notebaart RA.

Nat Commun. 2013;4:2124. doi: 10.1038/ncomms3124.

PMID:
23851603
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium.

van Dam TJ, Wheway G, Slaats GG; SYSCILIA Study Group, Huynen MA, Giles RH.

Cilia. 2013 May 31;2(1):7. doi: 10.1186/2046-2530-2-7.

PMID:
23725226
[PubMed]
Free PMC Article
8.

ODoSE: a webserver for genome-wide calculation of adaptive divergence in prokaryotes.

Vos M, te Beek TA, van Driel MA, Huynen MA, Eyre-Walker A, van Passel MW.

PLoS One. 2013 May 6;8(5):e62447. doi: 10.1371/journal.pone.0062447. Print 2013.

PMID:
23671597
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ.

Brain. 2013 May;136(Pt 5):1544-54. doi: 10.1093/brain/awt086. Epub 2013 Apr 18.

PMID:
23599390
[PubMed - indexed for MEDLINE]
Free Article
10.

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

van Bon BW, Oortveld MA, Nijtmans LG, Fenckova M, Nijhof B, Besseling J, Vos M, Kramer JM, de Leeuw N, Castells-Nobau A, Asztalos L, Viragh E, Ruiter M, Hofmann F, Eshuis L, Collavin L, Huynen MA, Asztalos Z, Verstreken P, Rodenburg RJ, Smeitink JA, de Vries BB, Schenck A.

Hum Mol Genet. 2013 Aug 1;22(15):3138-51. doi: 10.1093/hmg/ddt170. Epub 2013 Apr 10.

PMID:
23575228
[PubMed - indexed for MEDLINE]
Free Article
11.

Evolution of modular intraflagellar transport from a coatomer-like progenitor.

van Dam TJ, Townsend MJ, Turk M, Schlessinger A, Sali A, Field MC, Huynen MA.

Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):6943-8. doi: 10.1073/pnas.1221011110. Epub 2013 Apr 8.

PMID:
23569277
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Inferring metabolic states in uncharacterized environments using gene-expression measurements.

Rossell S, Huynen MA, Notebaart RA.

PLoS Comput Biol. 2013;9(3):e1002988. doi: 10.1371/journal.pcbi.1002988. Epub 2013 Mar 21.

PMID:
23555222
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Discovery of a HapE mutation that causes azole resistance in Aspergillus fumigatus through whole genome sequencing and sexual crossing.

Camps SM, Dutilh BE, Arendrup MC, Rijs AJ, Snelders E, Huynen MA, Verweij PE, Melchers WJ.

PLoS One. 2012;7(11):e50034. doi: 10.1371/journal.pone.0050034. Epub 2012 Nov 30.

PMID:
23226235
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP.

Hum Mol Genet. 2013 Feb 15;22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2.

PMID:
23125284
[PubMed - indexed for MEDLINE]
Free Article
15.

Loss, replacement and gain of proteins at the origin of the mitochondria.

Huynen MA, Duarte I, Szklarczyk R.

Biochim Biophys Acta. 2013 Feb;1827(2):224-31. doi: 10.1016/j.bbabio.2012.08.001. Epub 2012 Aug 10. Review.

PMID:
22902511
[PubMed - indexed for MEDLINE]
Free Article
16.

A three-dimensional topology of complex I inferred from evolutionary correlations.

Kensche PR, Duarte I, Huynen MA.

BMC Struct Biol. 2012 Aug 3;12:19. doi: 10.1186/1472-6807-12-19.

PMID:
22857522
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion.

Willems P, Wanschers BF, Esseling J, Szklarczyk R, Kudla U, Duarte I, Forkink M, Nooteboom M, Swarts H, Gloerich J, Nijtmans L, Koopman W, Huynen MA.

Antioxid Redox Signal. 2013 Jan 10;18(2):129-38. doi: 10.1089/ars.2011.4253. Epub 2012 Sep 11.

PMID:
22746225
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Structure based hypothesis of a mitochondrial ribosome rescue mechanism.

Huynen MA, Duarte I, Chrzanowska-Lightowlers ZM, Nabuurs SB.

Biol Direct. 2012 May 8;7:14. doi: 10.1186/1745-6150-7-14.

PMID:
22569235
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.

Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP, Nijtmans LG, Huynen MA.

Genome Biol. 2012 Feb 22;13(2):R12. doi: 10.1186/gb-2012-13-2-r12.

PMID:
22356826
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.

Wanschers BF, Szklarczyk R, Pajak A, van den Brand MA, Gloerich J, Rodenburg RJ, Lightowlers RN, Nijtmans LG, Huynen MA.

Nucleic Acids Res. 2012 May;40(9):4040-51. doi: 10.1093/nar/gkr1271. Epub 2012 Jan 11.

PMID:
22238375
[PubMed - indexed for MEDLINE]
Free PMC Article

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