PubMed for id: 32289

Year	Number of Results
1998	1
2002	1
2005	2
2006	2
2007	3
2009	3
2010	2
2011	1
2012	1
2024	0

1

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. Fassone E, et al. J Med Genet. 2011 Oct;48(10):691-7. doi: 10.1136/jmedgenet-2011-100340. J Med Genet. 2011. PMID: 21931170

2

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.

Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT. Dunning CJ, et al. EMBO J. 2007 Jul 11;26(13):3227-37. doi: 10.1038/sj.emboj.7601748. Epub 2007 Jun 7. EMBO J. 2007. PMID: 17557076 Free PMC article.

3

Human mitochondrial complex I assembly is mediated by NDUFAF1.

Vogel RO, Janssen RJ, Ugalde C, Grovenstein M, Huijbens RJ, Visch HJ, van den Heuvel LP, Willems PH, Zeviani M, Smeitink JA, Nijtmans LG. Vogel RO, et al. FEBS J. 2005 Oct;272(20):5317-26. doi: 10.1111/j.1742-4658.2005.04928.x. FEBS J. 2005. PMID: 16218961 Free article.

4

Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I).

Küffner R, Rohr A, Schmiede A, Krüll C, Schulte U. Küffner R, et al. J Mol Biol. 1998 Oct 23;283(2):409-17. doi: 10.1006/jmbi.1998.2114. J Mol Biol. 1998. PMID: 9769214

5

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.

Vogel RO, van den Brand MA, Rodenburg RJ, van den Heuvel LP, Tsuneoka M, Smeitink JA, Nijtmans LG. Vogel RO, et al. Mol Genet Metab. 2007 Jun;91(2):176-82. doi: 10.1016/j.ymgme.2007.02.007. Epub 2007 Mar 26. Mol Genet Metab. 2007. PMID: 17383918

6

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.

Vogel RO, Janssen RJ, van den Brand MA, Dieteren CE, Verkaart S, Koopman WJ, Willems PH, Pluk W, van den Heuvel LP, Smeitink JA, Nijtmans LG. Vogel RO, et al. Genes Dev. 2007 Mar 1;21(5):615-24. doi: 10.1101/gad.408407. Genes Dev. 2007. PMID: 17344420 Free PMC article.

7

CIA30 complex I assembly factor: a candidate for human complex I deficiency?

Janssen R, Smeitink J, Smeets R, van Den Heuvel L. Janssen R, et al. Hum Genet. 2002 Mar;110(3):264-70. doi: 10.1007/s00439-001-0673-3. Epub 2002 Feb 1. Hum Genet. 2002. PMID: 11935339

8

Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans.

van den Ecker D, van den Brand MA, Ariaans G, Hoffmann M, Bossinger O, Mayatepek E, Nijtmans LG, Distelmaier F. van den Ecker D, et al. Mitochondrion. 2012 May;12(3):399-405. doi: 10.1016/j.mito.2012.01.003. Epub 2012 Feb 22. Mitochondrion. 2012. PMID: 22387847

9

Assembly factors of human mitochondrial complex I and their defects in disease.

Mckenzie M, Ryan MT. Mckenzie M, et al. IUBMB Life. 2010 Jul;62(7):497-502. doi: 10.1002/iub.335. IUBMB Life. 2010. PMID: 20552642 Free article. Review.

10

Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma.

Carbone MA, Ayroles JF, Yamamoto A, Morozova TV, West SA, Magwire MM, Mackay TF, Anholt RR. Carbone MA, et al. PLoS One. 2009;4(1):e4216. doi: 10.1371/journal.pone.0004216. Epub 2009 Jan 16. PLoS One. 2009. PMID: 19148291 Free PMC article.

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