Ferrari M, Jain IH, Goldberger O, et al. Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome. Proc Natl Acad Sci U S A. 2017;114(21):E4241-E4250. doi:10.1073/pnas.1621511114.
Lake NJ, Webb BD, Stroud DA, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017;101(2):239-254. doi:10.1016/j.ajhg.2017.07.005.
Pagliarini DJ, Calvo SE, Chang B, et al. A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008;134(1):112-23. doi:10.1016/j.cell.2008.06.016.
Tucker EJ, Hershman SG, Köhrer C, et al. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metab. 2011;14(3):428-34. doi:10.1016/j.cmet.2011.07.010.
Legault JT, Strittmatter L, Tardif J, et al. A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. Cell Rep. 2015;13(5):981-9. doi:10.1016/j.celrep.2015.09.054.
Lee N, Daly MJ, DelMonte T, et al. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. Am J Hum Genet. 2001;68(2):397-409. doi:10.1086/318197.