A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-021-00965-z.pdf
Reference18 articles.
1. Zeviani M, Di Donato S. Mitochondrial disorders. Brain. 2004;127:2153–72. https://doi.org/10.1093/brain/awh259. Pt 10.
2. Mayr JA, Havlícková V, Zimmermann F, Magler I, Kaplanová V, Jesina P, et al. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Hum Mol Genet. 2010;19:3430–9. https://doi.org/10.1093/hmg/ddq254.
3. De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, et al. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet. 2004;41:120–4. https://doi.org/10.1136/jmg.2003.012047.
4. Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet. 2008;40:1288–90. https://doi.org/10.1038/ng.246.
5. Carroll J, He J, Ding S, Fearnley IM, Walker JE. TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I. Proc Natl Acad Sci USA. 2021;118:e2100558118. https://doi.org/10.1073/pnas.2100558118.
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