Mitochondrial Diseases

Displaying 1 - 14 of 14CSV
Ivaniuk, A., Anselm, I. A., Bowen, A., Cohen, B. H., Eminoglu, F. T., Estrella, J., Gallagher, R. C., Ganetzky, R. D., Gannon, J., Gorman, G. S., Greene, C., Gropman, A. L., Haas, R. H., Hirano, M., Kapoor, S., Karaa, A., Koenig, M. K., Kornblum, C., Kose, E., … Yuen, C.-L. (2025). Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders. Neurology, 104(4). https://doi.org/10.1212/wnl.0000000000209779
Publication Date
Pesini, A., Barriocanal-Casado, E., Compagnoni, G. M., Hidalgo-Gutierrez, A., Yanez, G., Bakkali, M., Chhonker, Y. S., Kleiner, G., Larrea, D., Tadesse, S., Lopez, L. C., Murry, D. J., Di Fonzo, A., Area-Gomez, E., & Quinzii, C. M. (2025). Coenzyme Q10 deficiency disrupts lipid metabolism by altering cholesterol homeostasis in neurons. Free Radical Biology and Medicine, 229, 441–457. https://doi.org/10.1016/j.freeradbiomed.2025.01.009
Publication Date
Morcillo, P., Kabra, K., Velasco, K., Cordero, H., Jennings, S., Yun, T. D., Larrea, D., Akman, H. O., & Schon, E. A. (2024). Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease. Cell Death & Disease, 15(6). https://doi.org/10.1038/s41419-024-06781-9
Publication Date
Corral-Sarasa, J., Martínez-Gálvez, J. M., González-García, P., Wendling, O., Jiménez-Sánchez, L., López-Herrador, S., Quinzii, C. M., Díaz-Casado, M. E., & López, L. C. (2024). 4-Hydroxybenzoic acid rescues multisystemic disease and perinatal lethality in a mouse model of mitochondrial disease. Cell Reports, 43(5), 114148. https://doi.org/10.1016/j.celrep.2024.114148
Publication Date
D’Acunzo, P., Argyrousi, E. K., Ungania, J. M., Kim, Y., DeRosa, S., Pawlik, M., Goulbourne, C. N., Arancio, O., & Levy, E. (2024). Mitovesicles secreted into the extracellular space of brains with mitochondrial dysfunction impair synaptic plasticity. Molecular Neurodegeneration, 19(1). https://doi.org/10.1186/s13024-024-00721-z
Publication Date
Wang, L., Rivas, R., Wilson, A., Park, Y. M., Walls, S., Yu, T., & Miller, A. C. (2023). Dose-Dependent Effects of Radiation on Mitochondrial Morphology and Clonogenic Cell Survival in Human Microvascular Endothelial Cells. Cells, 13(1), 39. https://doi.org/10.3390/cells13010039
Publication Date
Sturm, G., Karan, K. R., Monzel, A. S., Santhanam, B., Taivassalo, T., Bris, C., Ware, S. A., Cross, M., Towheed, A., Higgins-Chen, A., McManus, M. J., Cardenas, A., Lin, J., Epel, E. S., Rahman, S., Vissing, J., Grassi, B., Levine, M., Horvath, S., … Picard, M. (2023). OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases. Communications Biology, 6(1). https://doi.org/10.1038/s42003-022-04303-x
Publication Date
Thompson, J. L. P., Karaa, A., Pham, H., Yeske, P., Krischer, J., Xiao, Y., Long, Y., Kramer, A., Dimmock, D., Holbert, A., Gorski, C., Engelstad, K. M., Buchsbaum, R., Rosales, X. Q., & Hirano, M. (2023). The evolution of the mitochondrial disease diagnostic odyssey. Orphanet Journal of Rare Diseases, 18(1). https://doi.org/10.1186/s13023-023-02754-x
Publication Date
Wilkins, S. R., Yu, A. W., Steigerwald, C., Tanji, K., Iglesias, A. D., Hirano, M., Kister, I., Riley, C. S., & Abreu, N. J. (2023). Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder. Multiple Sclerosis Journal, 29(7), 892–897. https://doi.org/10.1177/13524585231172947
Publication Date
Avrutsky, M. I., Lawson, J. M., Smart, J. E., Chen, C. W., & Troy, C. M. (2022). Noninvasive Ophthalmic Imaging Measures Retinal Degeneration and Vision Deficits in Ndufs4−/− Mouse Model of Mitochondrial Complex I Deficiency. Translational Vision Science & Technology, 11(8), 5. https://doi.org/10.1167/tvst.11.8.5
Publication Date
Shintaku, J., Pernice, W. M., Eyaid, W., GC, J. B., Brown, Z. P., Juanola-Falgarona, M., Torres-Torronteras, J., Sommerville, E. W., Hellebrekers, D. M. E. I., Blakely, E. L., Donaldson, A., van de Laar, I., Leu, C.-S., Marti, R., Frank, J., Tanji, K., Koolen, D. A., Rodenburg, R. J., Chinnery, P. F., … Hirano, M. (2022). RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. Journal of Clinical Investigation, 132(13). https://doi.org/10.1172/jci145660
Publication Date
Emmanuele, V., Ganesh, J., Vladutiu, G., Haas, R., Kerr, D., Saneto, R. P., Cohen, B. H., Van Hove, J. L. K., Scaglia, F., Hoppel, C., Rosales, X. Q., Barca, E., Buchsbaum, R., Thompson, J. L., DiMauro, S., & Hirano, M. (2022). Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). Molecular Genetics and Metabolism, 136(2), 125–131. https://doi.org/10.1016/j.ymgme.2022.05.001
Publication Date
Karan, K. R., Trumpff, C., Cross, M., Engelstad, K. M., Marsland, A. L., McGuire, P. J., Hirano, M., & Picard, M. (2022). Leukocyte cytokine responses in adult patients with mitochondrial DNA defects. Journal of Molecular Medicine, 100(6), 963–971. https://doi.org/10.1007/s00109-022-02206-2
Publication Date