Nucleotide Metabolism and Enzyme Regulation

Displaying 1 - 10 of 10CSV
Hidalgo‐Gutierrez, A., Shintaku, J., Ramon, J., Barriocanal‐Casado, E., Pesini, A., Saneto, R. P., Garrabou, G., Milisenda, J. C., Matas‐Garcia, A., Gort, L., Ugarteburu, O., Gu, Y., Koganti, L., Wang, T., Tadesse, S., Meneri, M., Sciacco, M., Wang, S., Tanji, K., … Hirano, M. (2024). Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease. Annals of Neurology, 96(6), 1209–1224. Portico. https://doi.org/10.1002/ana.27071
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Torres-Diz, M., Reglero, C., Falkenstein, C. D., Castro, A., Hayer, K. E., Radens, C. M., Quesnel-Vallières, M., Ang, Z., Sehgal, P., Li, M. M., Barash, Y., Tasian, S. K., Ferrando, A., & Thomas-Tikhonenko, A. (2024). An Alternatively Spliced Gain-of-Function NT5C2 Isoform Contributes to Chemoresistance in Acute Lymphoblastic Leukemia. Cancer Research. https://doi.org/10.1158/0008-5472.can-23-3804
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Clark, V. C., Strange, C., Strnad, P., Sanchez, A. J., Kwo, P., Pereira, V. M., van Hoek, B., Barjaktarevic, I., Corsico, A. G., Pons, M., Goldklang, M., Gray, M., Kuhn, B., Vargas, H. E., Vierling, J. M., Vuppalanchi, R., Brantly, M., Kappe, N., Chang, T., … Loomba, R. (2024). Fazirsiran for Adults With Alpha-1 Antitrypsin Deficiency Liver Disease: A Phase 2 Placebo Controlled Trial (SEQUOIA). Gastroenterology. https://doi.org/10.1053/j.gastro.2024.06.028
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Sanguinetti, M., Silva Santos, L. H., Dourron, J., Alamón, C., Idiarte, J., Amillis, S., Pantano, S., & Ramón, A. (2022). Substrate Recognition Properties from an Intermediate Structural State of the UreA Transporter. International Journal of Molecular Sciences, 23(24), 16039. https://doi.org/10.3390/ijms232416039
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de Vries, L. E., Jansen, P. A. M., Barcelo, C., Munro, J., Verhoef, J. M. J., Pasaje, C. F. A., Rubiano, K., Striepen, J., Abla, N., Berning, L., Bolscher, J. M., Demarta-Gatsi, C., Henderson, R. W. M., Huijs, T., Koolen, K. M. J., Tumwebaze, P. K., Yeo, T., Aguiar, A. C. C., Angulo-Barturen, I., … Dechering, K. J. (2022). Preclinical characterization and target validation of the antimalarial pantothenamide MMV693183. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-29688-5
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Torres-Diz, M., Thomas-Tikhonenko, A., Reglero, C., Ferrando, A., Falkenstein, C. D., Tasian, S. K., Sehgal, P., Ang, Z., Barash, Y., & Radens, C. (2022). Non-Canonical Exon Usage in Pediatric Leukemia: Implications for Chemoresistance. Blood, 140(Supplement 1), 3264–3265. https://doi.org/10.1182/blood-2022-167006
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Macy, M., Cash, T., Pinto, N., Pressey, J. G., Szalontay, L., Furman, W. L., Bukowinski, A., Foster, J. H., Friedman, G. K., HaDuong, J., Fox, E., Weigel, B. J., Grevel, J., Huang, F., Phelps, C., Childs, B. H., Chung, J., Chaturvedi, S., Schulz, A., & DuBois, S. G. (2022). Phase I dose-escalation study of the pan-PI3 K inhibitor copanlisib in children and adolescents with relapsed/refractory solid tumors. European Journal of Cancer, 174, S28–S29. https://doi.org/10.1016/s0959-8049(22)00878-4
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Li, Y., Zhang, R., Wang, C., Forouhar, F., Clarke, O. B., Vorobiev, S., Singh, S., Montelione, G. T., Szyperski, T., Xu, Y., & Hunt, J. F. (2022). Oligomeric interactions maintain active‐site structure in a noncooperative enzyme family. The EMBO Journal, 41(17). Portico. https://doi.org/10.15252/embj.2021108368
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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
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