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Defining how defects in actin-dependent DNA repair and replication cause disease

Project Details

Short titleDefining how defects in actin-dependent DNA repair and replication cause disease
StatusActive
Effective start/end date1/06/25 → 31/05/28

Funding

  • Medical Research Council

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  • Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement

    Galassi Deforie, V., Maroofian, R., Karagoz, I., Godwin, A., Al Sheikh, E., Gestri, G., Zaki, M. S., Woodward, B. L., Ghorab, R. M., Alvi, J. R., Alabdi, L., Damseh, N., Elshafie, R. M., Scardamaglia, A., Alves, C., Shaikh, M., Özcan, G. G., Sadek, A. A., Issa, M. Y. & Striano, P. & 46 others, Suri, M., Murphy, D., Ashhab, M., de la Fuente, R. P., Arteche-López, A., Hashem, M. O., Abdulwahab, F., Aboelanine, A. H., Alkhawaja, I. A., Ibrahim, S., van der Burg, M., Berghuis, D., Santen, G. W., Toosi, M. B., Alerasool, M., Eslahi, A., Srinivasan, V. M., Gowda, V. K., Trollmann, R., Vasileiou, G., Pauly, M., Hashemi-Gorji, F., Miryounesi, M., Salpietro, V., Al-Herz, W., Carter, S. P., Briggs, T. A., Hussell, T., Ruuska-Loewald, T., Komulainen-Ebrahim, J., Uusimaa, J., Hautala, T., Potluri, S., Shackley, F., Mojarrad, M., Chung, W. K., Wilson, S. W., Sultan, T., Gleeson, J. G., Marafi, D., Alkuraya, F. S., Stewart, G. S., Efthymiou, S., Guille, M., Arkwright, P. D. & Houlden, H., May 2026, In: Genetics in Medicine. 28, 5, 16 p., 102551.

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

    Open Access
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  • Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin

    Woodward, B. L., Lahiri, S., Chauhan, A. S., Garcia, M. R., Goodley, L. E., Clarke, T. L., Pal, M., Agathanggelou, A., Jhujh, S. S., Ganesh, A. N., Hollins, F. M., Deforie, V. G., Maroofian, R., Efthymiou, S., Meinhardt, A., Mathew, C. G., Simpson, M. A., Mefford, H. C., Faqeih, E. A. & Rosenzweig, S. D. & 16 others, Volpi, S., Di Matteo, G., Cancrini, C., Scardamaglia, A., Shackley, F., Davies, E. G., Ibrahim, S., Arkwright, P. D., Zaki, M. S., Stankovic, T., Taylor, A. M. R., Mazur, A. J., Di Donato, N., Houlden, H., Rothenberg, E. & Stewart, G. S., Dec 2025, In: Nature Communications. 16, 1, 20 p., 4491.

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

    Open Access
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    76 Downloads (Pure)

  • Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay

    Hough, S. H., Jhujh, S. S., Awwad, S. W., Lewis, O. E., Lam, S., Thomas, J. C., Mosler, T., Bader, A., Bartik, L., McKee, S., Amudhavalli, S., Colin, E., Damseh, N., Clement, E., Cacheiro, P., Majumdar, A., Smedley, D., Fluss, J., Giannini, R. & Thiffault, I. & 8 others, Zagnoli Vieira, G., Belotserkovskaya, R., Smerdon, S. J., Beli, P., Galanty, Y., Carnie, C. J., Stewart, G. S. & Jackson, S. P., 19 Dec 2025, (E-pub ahead of print) In: EMBO Molecular Medicine. 22 p.

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

    Open Access
    File
    1 Downloads (Pure)