Nijtmans LG, et al. SURF1 is required for the assembly of cytochrome c oxidase. J Biol Chem. 1999
Tiranti V, et al. Mutations in SURF1 cause Leigh syndrome. Nat Genet. 1998
Ponte P, et al. Cytochrome c oxidase deficiency and Leigh syndrome. Ann Neurol. 2004
Zhou L, et al. Mitochondrial complex IV assembly and disease. Biochim Biophys Acta. 2019
Diomate A, et al. SURF1 mutations in Leigh syndrome spectrum. Mol Genet Metab. 2018
Fossett N, et al. Cytochrome c oxidase assembly factors in neurological disease. Exp Neurol. 2019
Le W, et al. Mitochondrial complex I deficiency in neurodegenerative disease. J Neurochem. 2020
Rak M, et al. Cytochrome c oxidase assembly in mitochondrial disease. J Inherit Metab Dis. 2019
Diaz F, et al. Cytochrome c oxidase and mitochondrial function. Biochim Biophys Acta. 2019
Carr H, et al. Assembly of cytochrome c oxidase in health and disease. J Bioenerg Biomembr. 2018
Barrientos A, et al. Yeast models of mitochondrial complex IV deficiency. Hum Mol Genet. 2019
Ghezzi D, et al. Mitochondrial assembly factors in human disease. J Mol Med. 2019
Saftig P, et al. Lysosomal storage disorders and mitochondrial dysfunction. Cell Mol Life Sci. 2019
Wallace DC, et al. Mitochondrial DNA mutations in disease and aging. Annu Rev Genet. 2018
Stauch ML, et al. Mouse models of Leigh syndrome and metabolic encephalopathy. Exp Neurol. 2019
Moreno M, et al. Therapeutic approaches to mitochondrial disease. Curr Opin Pediatr. 2020
Timpson G, et al. Gene therapy for mitochondrial diseases. J Gene Med. 2018
Schara U, et al. Supportive treatment for mitochondrial disease. Neuropediatrics. 2020
Perez M, et al. Mitochondrial biomarkers in Leigh syndrome. J Inherit Metab Dis. 2020
Khan M, et al. SURF1 and Complex IV assembly in neurodegeneration. J Mol Neurosci. 2021
Chen L, et al. SURF1 mutations and mitochondrial complex IV deficiency. Hum Mutat. 2022
Singh P, et al. Gene therapy approaches for SURF1 deficiency. Mol Ther. 2023
Wredenberg A, et al. Mouse models of Complex IV deficiency. Biochim Biophys Acta. 2021
Garcia-Martinez V, et al. Bioenergetic consequences of SURF1 deficiency. J Bioenerg Biomembr. 2022
Inoue K, et al. iPSC models of SURF1-related Leigh syndrome. Stem Cell Rep. 2021
Varone E, et al. Metabolic rewiring in SURF1-deficient cells. Cell Metab. 2022
Bottani E, et al. Targeted therapies for mitochondrial complex IV disorders. Nat Rev Neurol. 2023
Schubert S, et al. Diagnostic approaches to SURF1 deficiency. J Inherit Metab Dis. 2023