Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

Smith, T. B., Kopajtich, R., Demain, L. A. M., Rea, A., Thomas, H. B., Schiff, M., Beetz, C., Joss, S., Conway, G. S., Shukla, A., Yeole, M., Radhakrishnan, P., Azzouz, H., Ben Chehida, A., Elmaleh-Bergès, M., Glasgow, R. I. C., Thompson, K., Oláhová, M., He, L. & Jenkinson, E. M. & 19 others, Jahic, A., Belyantseva, I. A., Barzik, M., Urquhart, J. E., O'Sullivan, J., Williams, S. G., Bhaskar, S. S., Carrera, S., Blakes, A. J. M., Banka, S., Yue, W. W., Ellingford, J. M., Houlden, H., Munro, K. J., Friedman, T. B., Taylor, R. W., Prokisch, H., O'Keefe, R. T. & Newman, W. G., 2 Jan 2025, In: American Journal of Human Genetics. 112, 1, p. 59-74 16 p.

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

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

Thomas, H. B., Demain, L. A. M., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H. E., Rea, A., Bharadwaj, T., Smith, T. B., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J. M. & Stark, Z. & 26 others, Mancilar, H., Tumer, S., Esen, F. N., Uctepe, E., Topcu, V., Yesilyurt, A., Afzal, E., Salari, M., Carroll, C., Zifarelli, G., Bauer, P., Kor, D., Bulut, F. D., Houlden, H., Maroofian, R., Carrera, S., Yue, W. W., Munro, K. J., Alkuraya, F. S., Jamieson, P., Ahmed, Z. M., Leal, S. M., Taylor, R. W., Wittig, I., O'Keefe, R. T. & Newman, W. G., 4 Mar 2025, (E-pub ahead of print) In: American Journal of Human Genetics. 112, 12 p.

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

COA5 has an essential role in the early stage of mitochondrial complex IV assembly

Tang, J. X., Cabrera-Orefice, A., Meisterknecht, J., Taylor, L. S., Monteuuis, G., Stensland, M. E., Szczepanek, A., Stals, K., Davison, J., He, L., Hopton, S., Nyman, T. A., Jackson, C. B., Pyle, A., Winter, M., Wittig, I. & Taylor, R. W., 1 Mar 2025, In: Life Science Alliance. 8, 3, 12 p., e202403013.

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

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

Van Haute, L., Páleníková, P., Tang, J. X., Nash, P. A., Simon, M. T., Pyle, A., Oláhová, M., Powell, C. A., Rebelo-Guiomar, P., Stover, A., Champion, M., Deshpande, C., Baple, E. L., Stals, K. L., Ellard, S., Anselem, O., Molac, C., Petrilli, G., Loeuillet, L. & Grotto, S. & 4 others, Attie-Bitach, T., Abdenur, J. E., Taylor, R. W. & Minczuk, M., 13 Jan 2025, In: EMBO Molecular Medicine. 17, 1, p. 193-210 18 p.

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