Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 2
1988 1
1989 2
1991 2
1992 4
1993 2
1994 4
1995 5
1996 3
1997 1
1998 5
1999 4
2000 5
2001 1
2002 3
2003 4
2004 5
2005 3
2006 6
2007 3
2008 5
2009 4
2011 4
2012 1
2013 4
2014 4
2015 3
2016 3
2017 3
2018 2
2019 2
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

96 results

Results by year

Filters applied: . Clear all
Page 1
Mitochondrial cytochrome c oxidase deficiency.
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P. Rak M, et al. Clin Sci (Lond). 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707. Clin Sci (Lond). 2016. PMID: 26846578 Free PMC article. Review.
This brings back many unsolved questions related to the frequent delay of clinical manifestation, variable course and severity, and tissue-involvement often associated with these diseases. ...
This brings back many unsolved questions related to the frequent delay of clinical manifestation, variable course and severity, and t …
Genetic defects of cytochrome c oxidase assembly.
Pecina P, Houstková H, Hansíková H, Zeman J, Houstek J. Pecina P, et al. Physiol Res. 2004;53 Suppl 1:S213-23. Physiol Res. 2004. PMID: 15119951 Free article. Review.
No satisfactory therapy is currently available so that the treatment remains largely symptomatic and does not improve the course of the disease. While only few genetic defects of COX are caused by mutations in mitochondrial genome, during the last five years a large number …
No satisfactory therapy is currently available so that the treatment remains largely symptomatic and does not improve the course of t …
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. Inoue M, et al. Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2. Ann Neurol. 2019. PMID: 31155743
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Maalej M, Kammoun T, Alila-Fersi O, Kharrat M, Ammar M, Felhi R, Mkaouar-Rebai E, Keskes L, Hachicha M, Fakhfakh F. Maalej M, et al. Biochem Biophys Res Commun. 2018 Mar 18;497(4):1043-1048. doi: 10.1016/j.bbrc.2018.02.169. Epub 2018 Feb 23. Biochem Biophys Res Commun. 2018. PMID: 29481804
After clinical investigations, three Tunisian patients were tested for mutations in both MT-ATP6 and SURF1 genes by direct sequencing followed by in silico analyses to predict the effects of sequence variation. The result of mutational analysis revealed the absence of mito …
After clinical investigations, three Tunisian patients were tested for mutations in both MT-ATP6 and SURF1 genes by direct sequencing follow …
Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity.
Mani S, Chandak GR, Singh KK, Singh R, Rao SN. Mani S, et al. Mitochondrion. 2020 Jul;53:91-98. doi: 10.1016/j.mito.2020.04.009. Epub 2020 May 4. Mitochondrion. 2020. PMID: 32380162
The nucleotide changes were analysed by using different in-silico tools for predicting their pathogenicity. Based upon the predictions, we further validated the analyzed functional significance of p.N249D and p.P298L mutations in SURF1 protein using COS-7 cells. ...
The nucleotide changes were analysed by using different in-silico tools for predicting their pathogenicity. Based upon the predict …
Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS protein.
Son M, Leary SC, Romain N, Pierrel F, Winge DR, Haller RG, Elliott JL. Son M, et al. J Biol Chem. 2008 May 2;283(18):12267-75. doi: 10.1074/jbc.M708523200. Epub 2008 Mar 11. J Biol Chem. 2008. PMID: 18334481 Free PMC article.
G93A SOD1 transgenic mice overexpressing CCS protein develop an accelerated disease course that is associated with enhanced mitochondrial pathology and increased mitochondrial localization of mutant SOD1. ...
G93A SOD1 transgenic mice overexpressing CCS protein develop an accelerated disease course that is associated with enhanced mitochond …
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.
Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. Böhm M, et al. Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191.13. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16326995
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features, prognosis, and molecular bases of the COX deficiency. Clinical symptoms including failure to thrive, encephalopathy, hypotony, Leigh syndrome, card …
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features, prognosis …
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.
Vondrackova A, Vesela K, Hansikova H, Docekalova DZ, Rozsypalova E, Zeman J, Tesarova M. Vondrackova A, et al. J Hum Genet. 2012 Jul;57(7):442-8. doi: 10.1038/jhg.2012.49. Epub 2012 May 17. J Hum Genet. 2012. PMID: 22592081
Nine novel variants were identified in exons and adjacent intronic regions of COX4I2, COX6A1, COX6A2, COX7A1, COX7A2 and COX10 using high-resolution melting (HRM) analysis. Online bioinformatics servers were used to predict the importance of the newly identified amino-acid …
Nine novel variants were identified in exons and adjacent intronic regions of COX4I2, COX6A1, COX6A2, COX7A1, COX7A2 and COX10 using high-re …
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Horvath R, et al. Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31. Brain. 2009. PMID: 19720722 Free PMC article.
Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. ...This study provides the rationale for a simple genetic test to identify infants with mi …
Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to d …
96 results