Similar articles for PMID: 23125284

Year	Number of Results
1986	1
1987	1
1988	2
1989	1
1990	2
1991	5
1992	3
1993	1
1995	5
1996	4
1997	1
1998	3
1999	4
2000	8
2001	5
2002	7
2003	4
2004	10
2005	4
2006	7
2007	5
2008	6
2009	9
2010	5
2011	13
2012	17
2013	23
2014	14
2015	18
2016	21
2017	18
2018	14
2019	13
2020	11
2021	8
2022	3
2023	2
2024	0

1

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. Szklarczyk R, et al. Hum Mol Genet. 2013 Feb 15;22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2. Hum Mol Genet. 2013. PMID: 23125284

2

Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.

Bourens M, Boulet A, Leary SC, Barrientos A. Bourens M, et al. Hum Mol Genet. 2014 Jun 1;23(11):2901-13. doi: 10.1093/hmg/ddu003. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403053 Free PMC article.

3

Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast.

Reinhold R, Bareth B, Balleininger M, Wissel M, Rehling P, Mick DU. Reinhold R, et al. Hum Mol Genet. 2011 Jun 15;20(12):2379-93. doi: 10.1093/hmg/ddr145. Epub 2011 Apr 5. Hum Mol Genet. 2011. PMID: 21470975

4

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.

Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Doss S, et al. J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8. J Neurol. 2014. PMID: 24202787

5

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. Wanschers BF, et al. Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9. Hum Mol Genet. 2014. PMID: 25008109

6

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ. Huigsloot M, et al. Am J Hum Genet. 2011 Apr 8;88(4):488-93. doi: 10.1016/j.ajhg.2011.03.002. Epub 2011 Mar 31. Am J Hum Genet. 2011. PMID: 21457908 Free PMC article.

7

Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency.

Kurian MA, O'Mahoney ES, Rustin P, Brown G, Treacy EP, King MD. Kurian MA, et al. Eur J Paediatr Neurol. 2004;8(1):55-9. doi: 10.1016/j.ejpn.2003.10.006. Eur J Paediatr Neurol. 2004. PMID: 15023375

8

Biogenesis of cytochrome oxidase-sophisticated assembly lines in the mitochondrial inner membrane.

Herrmann JM, Funes S. Herrmann JM, et al. Gene. 2005 Jul 18;354:43-52. doi: 10.1016/j.gene.2005.03.017. Gene. 2005. PMID: 15905047 Review.

9

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA. Papadopoulou LC, et al. Nat Genet. 1999 Nov;23(3):333-7. doi: 10.1038/15513. Nat Genet. 1999. PMID: 10545952

10

Multiple roles of the Cox20 chaperone in assembly of Saccharomyces cerevisiae cytochrome c oxidase.

Elliott LE, Saracco SA, Fox TD. Elliott LE, et al. Genetics. 2012 Feb;190(2):559-67. doi: 10.1534/genetics.111.135665. Epub 2011 Nov 17. Genetics. 2012. PMID: 22095077 Free PMC article.

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