PDB ID 8QSW: Crystal structure of SPOUT1/CENP-32 | A356N catalytic site mutant

Dataset

Description

Bi-allelic variants of SPOUT1, a novel RNA methyltransferase, cause chromosome missegregation and a rare neurodevelopmental disease
PDB DOI: https://doi.org/10.2210/pdb8QSW/pdb
Classification: CELL CYCLE
Organism(s): Homo sapiens
Expression System: Escherichia coli
Mutation(s): No

Data Citation

Jeyaprakash, A.A., Abad, M.A., Bi-allelic variants of SPOUT1, a novel RNA methyltransferase, cause chromosome missegregation and a rare neurodevelopmental disease, https://doi.ogr/10.2210/pdb8QSW/pdb
Date made available23 Oct 2024
PublisherRCSB Protein Data Bank

  • RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

    Dharmadhikari, A. V., Abad, M. A., Khan, S., Maroofian, R., Sands, T. T., Ullah, F., Samejima, I., Shen, Y., Wear, M. A., Moore, K. E., Kondakova, E., Mitina, N., Schaub, T., Lee, G. K., Umandap, C. H., Berger, S. M., Iglesias, A. D., Popp, B., Abou jamra, R. & Gabriel, H. & 62 others, Rentas, S., Rippert, A. L., Gray, C., Izumi, K., Conlin, L. K., Koboldt, D. C., Mosher, T. M., Hickey, S. E., Albert, D. V. F., Norwood, H., Lewanda, A. F., Dai, H., Liu, P., Mitani, T., Marafi, D., Eker, H. K., Pehlivan, D., Posey, J. E., Lippa, N. C., Vena, N., Heinzen, E. L., Goldstein, D. B., Mignot, C., De sainte agathe, J.-M., Al-Sannaa, N. A., Zamani, M., Sadeghian, S., Azizimalamiri, R., Seifia, T., Zaki, M. S., Abdel-Salam, G. M. H., Abdel-Hamid, M. S., Alabdi, L., Alkuraya, F. S., Dawoud, H., Lofty, A., Bauer, P., Zifarelli, G., Afzal, E., Zafar, F., Efthymiou, S., Gossett, D., Towne, M. C., Yeneabat, R., Perez-Duenas, B., Cazurro-Gutierrez, A., Verdura, E., Cantarin-Extremera, V., Marques, A. D. V., Helwak, A., Tollervey, D., Wontakal, S. N., Aggarwal, V. S., Rosenfeld, J. A., Tarabykin, V., Ohta, S., Lupski, J. R., Houlden, H., Earnshaw, W. C., Davis, E. E., Jeyaprakash, A. A. & Liao, J., 17 Feb 2025, In: Nature Communications. 16, 1, 24 p., 1703.

    Research output: Contribution to journal › Article › peer-review

    Open Access
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