2023
- Kim, E. S., Casey, J. G., Tao, B. S., Mansur, A., Mathiyalagan, N., et al. (2023). Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2. Disease Models & Mechanisms.
- Miyake, C. Y., Ehsan, S., Zhang, L., Mackenzie, S., Azamian, M., et al. (2023). Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. American Journal of Medical Genetics.
- Yılmaz-Gümüş, E., Elcioglu, N. H., Genç, E., Arıcı, Ş., Öztürk, G., et al. (2023). Management of acute metabolic crisis in TANGO2 deficiency: A case report. Journal of Pediatric Endocrinology and Metabolism.
- Lujan, A. L., Foresti, O., Sugden, C., Brouwers, N., Farre, A. M., et al. (2023). Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism. eLife.
- Miyake, C. Y., Lay, E. J., Soler-Alfonso, C., Glinton, K. E., Houck, K., et al. (2023). Natural history of TANGO2 deficiency disorder- Baseline assessment of 73 patients. Genetics in Medicine, 25(4).
- Lalani, S. R., Graham, B., Burrage, L., Lai, Y., Scaglia, F., et al. (Updated 2023, March 9). TANGO2-related metabolic encephalopathy and arrhythmias. GeneReviews® [Internet].
- Gomes, S., Laranjo, S., Trigo, C., & Pinto, F. F. (2023). The TANGO2 disease and the therapeutic challenge of acute arrhythmia management: A case report. European Heart Journal – Case Reports, 7(2).
2022
- Sandkuhler, S. E., Zhang, L., Meisner, J. K., Ghaloul-Gonzalez, L., Beach, C. M., et al. (2022). B-complex vitamins for patients with TANGO2-deficiency disorder. Journal of Inherited Metabolic Disease.
- Casey, J. G., Kim, E. S., Tao, B. S., Mansur, A., Wallace, E. D., et al. (2022, November 12). Glycerolipid defects in skeletal muscle contribute to rhabdomyolysis in Tango2 deficiency. bioRxiv.
- Lujan, A., Foresti, O., Brouwers, N., Farre, A. M., Vignoli, A., et al. (2022, November 5). Defects in lipid homeostasis reflect the function of TANGO2 in acyl-coA metabolism. bioRxiv.
- Asadi, P., Milev, M. P., Saint-Dic, D., Gamberi, C., & Sacher, M. (2022, November 4).Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells. Journal of Inherited Metabolic Disease, 46(2), 358-368.
- Yokoi, K., Nakajima, Y., Takahashi, Y., Hamajima, T., Tajima, G., et al. (2022). Transport and golgi organization 2 deficiency with a prominent elevation of C14 during a metabolic crisis: A case report. JIMD Reports, 1–7.
- Miyake, C. Y., Lay, E. J., Beach, C., Ceresnak, S. R., Delauz, C. M., et al. (2022). Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises. Heart Rhythm, 19(10), 1673–1681.
- Zhang, L., Xu, W., Cao, Y., Yu, A., Kim, J., et al. (2022, June 22). Folate ameliorates arrhythmia in patient-derived TANGO2-deficient iPSC-cardiomyocytes. Research Square.
- Murali, C. N., Lalani, S. R., Azamian, M. S., Miyake, C. Y., & Smith, H. S. (2022). Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias. European Journal of Human Genetics, 30(9), 1044–1050.
- Heiman, P., Mohsen, A. W., Karunanidhi, A., St Croix, C., Watkins, S., et al. (2022). Mitochondrial dysfunction associated with TANGO2 deficiency. Scientific Reports, 12(1).
2021
- TANGO2-related metabolic encephalopathy and arrhythmias. (2021, November 8). Genetic and Rare Diseases Information Center.
- Powell, A. R., Ames, E. G., Knierbein, E. N., Hannibal, M. C., & Mackenzie, S. J. (2021). Symptom prevalence and genotype-phenotype correlations in patients with TANGO2-related metabolic encephalopathy and arrhythmias (TRMEA). Pediatric Neurology, 119, 34–39.
2020
- It takes two to TANGO2. (2020, December 4). Journal of Inherited Metabolic Disease.
- Bérat, C., Montealegre, S., Wiedemann, A., Nuzum, M. L. C., Blondel, A., et al. (2020). Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. Journal of Inherited Metabolic Disease, 44(2), 415–425.
- Milev, M. P., Saint-Dic, D., Zardoui, K., Klopstock, T., Law, C., et al. (2020). The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. Journal of Inherited Metabolic Disease, 44(2), 426–437.
- Mingirulli, N., Pyle, A., Hathazi, D., Alston, C. L., Kohlschmidt, N., et al. (2020). Clinical presentation and proteomic signature of patients with TANGO2 mutations. Journal of Inherited Metabolic Disease, 43(2), 297–308.
2019
- Jennions, E., Hedberg-Oldfors, C., Berglund, A., Kollberg, G., Törnhage, C., et al. (2019). TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism. Journal of Inherited Metabolic Disease, 42(5), 898–908.
- Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., et al. (2019). TANGO2: Expanding the clinical phenotype and spectrum of pathogenic variants. Genetics in Medicine, 21(3), 601–607.
2018
- Lalani, S. R., Graham, B., Burrage, L., Lai, Y., Scaglia, F., et al. (2018, December 20). TANGO2-related metabolic encephalopathy and arrhythmias. GeneReviews® [Internet].
2016
- Lalani, S., Liu, P., Rosenfeld, J., Watkin, L., Chiang, T., et al. (2016). Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations. The American Journal of Human Genetics, 98(2), 347–357.
- Kremer, L., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., et al. (2016). Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. The American Journal of Human Genetics, 98(2), 358–362.
