Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-017-0047-5.pdf
Reference9 articles.
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2. Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, et al. Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. Eur J Hum Genet. 2017;25:1142–46.
3. Bourens M, Fontanesi F, Soto IC, Liu J, Barrientos A. Redox and reactive oxygen species regulation of mitochondrial cytochrome C oxidase biogenesis. Antioxid Redox Signal. 2013;19:1940–52.
4. Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, et al. Mitochondrial cytochrome c oxidase deficiency. Clin Sci (Lond). 2016;130:393–7.
5. Abdulhag UN, Soiferman D, Schueler-Furman O, et al. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. Eur J Hum Genet. 2015;23:159–64.
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