1. Szczerbinski L., Wojciechowska G., Olichwier A., Taylor M. A., Puchta U., Konopka P., et al. Untargeted Metabolomics Analysis of the Serum Metabolic Signature of Childhood Obesity. Nutrients. 2022;14 (1): 214.
2. Iliou A., Mikros E., Karaman I., Elliott F., Griffin J. L., Tzoulaki I., et al. Metabolic phenotyping and cardiovascular disease: an overview of evidence from epidemiological settings. Heart. 2021;107 (14): 1123-9.
3. Ribas G. S., Vargas C. R. Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders. Cellular and Molecular Neurobiology. 2020.
4. Martínez-Reyes I., Chandel N. S. Mitochondrial TCA cycle metabolites control physiology and disease. Nature Communications. 2020; 11 (1).
5. Niyazov D. M., Kahler S. G., Frye R. E. Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment. Molecular Syndromology. 2016; 7 (3): 122-37.
6. Li H., Uittenbogaard M., Hao L., Chiaramello A. Clinical Insights into Mitochondrial Neurodevelopmental and Neurodegenerative Disorders: Their Biosignatures from Mass Spectrometry-Based Metabolomics. Metabolites. 2021; 11 (4): 233.
7. Sun N., Youle R. J., Finkel T. The Mitochondrial Basis of Aging. Molecular Cell. 2016; 61 (5): 654-66.
8. Esterhuizen K., van der Westhuizen F. H., Louw R. Metabolomics of mitochondrial disease. Mitochondrion. 2017; 35: 97-110.
9. Bocca C., Le Paih V., Chao De La Barca J. M., Kouassy Nzoughet J., Amati-Bonneau P., Blanchet O., et al. A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies. Human Molecular Genetics. 2021; 30 (1): 21-9.
10. Fernandez-Vizarra E., Zeviani M. Mitochondrial disorders of the OXPHOS system. FEBS Letters. 2021; 595 (8): 1062-106.
11. Orsucci D., Caldarazzo Ienco E., Rossi A, Siciliano G., Mancuso M. Mitochondrial Syndromes Revisited. Journal of Clinical Medicine. 2021;10 (6): 1249.
12. Arena I. G., Pugliese A., Volta S., Toscano A., Musumeci O. Molecular Genetics Overview of Primary Mitochondrial Myopathies. Journal of Clinical Medicine. 2022; 11 (3): 632.
13. Buzkova J., Nikkanen J., Ahola S., Hakonen A. H., Sevastianova K., Hovinen T., et al. Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers. EMBO Molecular Medicine. 2018; 10 (12): e9091.
14. Esterhuizen K., Lindeque J. Z., Mason S., Van Der Westhuizen F. H., Suomalainen A., Hakonen A. H., et al. A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS). Mitochondrion. 2019; 45: 38-45.
15. Esterhuizen K., Lindeque J. Z., Mason S., Van Der Westhuizen F. H., Rodenburg R. J., De Laat P., et al. One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation. Metabolomics. 2021; 17 (1).
16. Andreeva N. A., Sheremet N. L. Leber’s Hereditary Optic Neuropathy with Neurological Abnormalities. Case Report. Ophthalmology in Russia. 2021; 18 (3S): 753-7.
17. Jurkute N., Harvey J., Yu-Wai-Man P. Treatment strategies for Leber hereditary optic neuropathy. Current Opinion in Neurology. 2019; 32 (1): 99-104.
18. Chao De La Barca J. M., Simard G., Amati-Bonneau P., Safiedeen Z., Prunier-Mirebeau D., Chupin S., et al. The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress. Brain. 2016; 139 (11): 2864-76.
19. Morvan D., Demidem A. NMR metabolomics of fibroblasts with inherited mitochondrial Complex I mutation reveals treatment-reversible lipid and amino acid metabolism alterations. Metabolomics. 2018; 14 (5).
20. Gonzalez-Riano C., Sanz-Rodríguez M., Escudero-Ramirez J., Lorenzo M. P., Barbas C., Cubelos B., et al. Target and untargeted GC-MS based metabolomic study of mouse optic nerve and its potential in the study of neurological visual diseases. Journal of Pharmaceutical and Biomedical Analysis. 2018; 153: 44-56.
21. Baracca A., Solaini G., Sgarbi G., Lenaz G., Baruzzi A., Schapira A. H. V., et al. Severe Impairment of Complex I-Driven Adenosine Triphosphate Synthesis in Leber Hereditary Optic Neuropathy Cybrids. Archives of Neurology. 2005; 62 (5): 730.
22. Bahr T., Welburn K., Donnelly J., Bai Y. D. Emerging model systems and treatment approaches for Leber’s hereditary optic neuropathy: Challenges and opportunities. Biochim Biophys Acta-Mol Basis Dis. 2020; 1866 (6): 16.
23. Peron C., Maresca A., Cavaliere A., Iannielli A., Broccoli V., Carelli V., et al. Exploiting hiPSCs in Leber’s Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives. Front Neurol. 2021; 12: 9.
24. Liang X., Kristiansen C. K., Vatne G. H., Hong Y., Bindoff L. A. Patient-specific neural progenitor cells derived from induced pluripotent stem cells offer a promise of good models for mitochondrial disease. Cell and Tissue Research. 2020; 380 (1): 15-30.
25. Barth P. G., Scholte H. R., Berden J. A., Vanderkleivanmoorsel J. M., Luythouwen I. E. M., Vantveerkorthof E. T., et al. AN X-LINKED MITOCHONDRIAL DISEASE AFFECTING CARDIAC-MUSCLE, SKELETAL-MUSCLE AND NEUTROPHIL LEUKOCYTES. Journal of the Neurological Sciences. 1983; 62 (1-3): 327-55.
26. Byeon S. K., Ramarajan M. G., Madugundu A. K., Oglesbee D., Vernon H. J., Pandey A. High-resolution mass spectrometric analysis of cardiolipin profiles in Barth syndrome. Mitochondrion. 2021; 60: 27-32.
27. Kulik W., Van Lenthe H., Stet F. S., Houtkooper R. H., Kemp H., Stone J. E., et al. Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome. Clinical Chemistry. 2008; 54 (2): 371-8.
28. Anzmann A. F., Sniezek O.L., Pado A., Busa V., Vaz F. M., Kreimer S.D., et al. Barth syndrome cellular models have dysregulated respiratory chain complex I and mitochondrial quality control due to abnormal cardiolipin. 2021.
29. Chatfield K. C., Sparagna G. C., Specht K. S., Whitcomb L. A., Omar A. K., Miyamoto S. D., et al. Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy. Journal of Inherited Metabolic Disease. 2021.
30. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. Journal of Neurology, Neurosurgery & Psychiatry. 1951; 14 (3): 216-21.
31. Leong D. W., Komen J. C., Hewitt C. A., Arnaud E., McKenzie M., Phipson B., et al. Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (Ndufs4) Gene. Journal of Biological Chemistry. 2012; 287 (24): 20652-63.
32. Terburgh K., Lindeque J. Z., Van Der Westhuizen F. H., Louw R. Cross-comparison of systemic and tissue-specific metabolomes in a mouse model of Leigh syndrome. Metabolomics. 2021; 17 (12).
33. Johnson S. C., Kayser E. B., Bornstein R., Stokes J., Bitto A., Park K. Y., et al. Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/alpha-ketoglutarate metabolism in mitochondrial disease. Mol Genet Metab. 2020; 130 (2): 118-32.
34. Julie, Strittmatter L., Tardif J., Sharma R., Tremblay-Vaillancourt V., Aubut C., et al. A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. Cell Reports. 2015; 13 (5): 981-9.
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