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2023
Lujan, A. L., Foresti, O., Sugden, C., Brouwers, N., Farre, A. M., Vignoli, A., Azamian, M., Turner, A., Wojnacki, J., & Malhotra, V. (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
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
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
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.
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
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
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
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.
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
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.
