PhD Monika Winter

Assistant Professor

School: Geography and Natural Sciences

Email Monika

Key Publications

Please visit the Pure Research Information Portal for further information
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder, Lambton, J., Asano, S., Huang, Y., Suomi, F., Eguchi, T., Petree, C., Huang, K., Prigent, M., Imam, A., McCorvie, T., Warren, D., Hobson, E., McCullagh, H., Misceo, D., Bjerre, A., Smeland, M., Klingenberg, C., Frengen, E., Naik, S., Ryan, G., Sudarsanam, A., Foster, K., Vasudevan, P., Samanta, R., Rahman, F., Maqbool, S., Udani, V., Efthymiou, S., Houlden, H., McFarland, R., Collier, J., Maroofian, R., Yue, W., Varshney, G., Klionsky, D., Legouis, R., McWilliams, T., Mizushima, N., Oláhová, M., Alston, C., Taylor, R. 7 May 2026, In: American Journal of Human Genetics
Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease, Fassad, M., Valenzuela, S., Oláhová, M., Collier, J., Knowles, C., Mavraki, E., Elbracht, M., Güzel, N., Herberhold, T., Kurth, I., Maier, A., Mattern, L., Saunders, C., McCullagh, H., Õunap, K., Wortmann, S., Reis, A., Zhang, L., Gustafsson, C., McFarland, R., Taylor, R. 1 Jan 2026, In: Clinical Genetics
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., Kopajtich, R., Demain, L., Rea, A., Thomas, H., Schiff, M., Beetz, C., Joss, S., Conway, G., Shukla, A., Yeole, M., Radhakrishnan, P., Azzouz, H., Ben Chehida, A., Elmaleh-Bergès, M., Glasgow, R., Thompson, K., Oláhová, M., He, L., Jenkinson, E., Jahic, A., Belyantseva, I., Barzik, M., Urquhart, J., O'Sullivan, J., Williams, S., Bhaskar, S., Carrera, S., Blakes, A., Banka, S., Yue, W., Ellingford, J., Houlden, H., Munro, K., Friedman, T., Taylor, R., Prokisch, H., O'Keefe, R., Newman, W. 2 Jan 2025, In: American Journal of Human Genetics
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency, Thomas, H., Demain, L., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H., Rea, A., Bharadwaj, T., Smith, T., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J., Stark, Z., Mancilar, H., Tumer, S., Esen, F., Uctepe, E., Topcu, V., Yesilyurt, A., Afzal, E., Salari, M., Carroll, C., Zifarelli, G., Bauer, P., Kor, D., Bulut, F., Houlden, H., Maroofian, R., Carrera, S., Yue, W., Munro, K., Alkuraya, F., Jamieson, P., Ahmed, Z., Leal, S., Taylor, R., Wittig, I., O'Keefe, R., Newman, W. 3 Apr 2025, In: American Journal of Human Genetics
COA5 has an essential role in the early stage of mitochondrial complex IV assembly, Tang, J., Cabrera-Orefice, A., Meisterknecht, J., Taylor, L., Monteuuis, G., Stensland, M., Szczepanek, A., Stals, K., Davison, J., He, L., Hopton, S., Nyman, T., Jackson, C., Pyle, A., Winter, M., Wittig, I., Taylor, R. 1 Mar 2025, In: Life Science Alliance
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease, Van Haute, L., Páleníková, P., Tang, J., Nash, P., Simon, M., Pyle, A., Oláhová, M., Powell, C., Rebelo-Guiomar, P., Stover, A., Champion, M., Deshpande, C., Baple, E., Stals, K., Ellard, S., Anselem, O., Molac, C., Petrilli, G., Loeuillet, L., Grotto, S., Attie-Bitach, T., Abdenur, J., Taylor, R., Minczuk, M. 13 Jan 2025, In: EMBO Molecular Medicine
RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis, Oláhová, M., Guerra, R., Collier, J., Heidler, J., Thompson, K., White, C., Castañeda-Tamez, P., Cabrera-Orefice, A., Lightowlers, R., Chrzanowska-Lightowlers, Z., Galkin, A., Wittig, I., Pagliarini, D., Taylor, R. 1 Oct 2025, In: EMBO Journal
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype, Smith, T., Kopajtich, R., Demain, L., Rea, A., Thomas, H., Schiff, M., Beetz, C., Joss, S., Conway, G., Shukla, A., Yeole, M., Radhakrishnan, P., Azzouz, H., Ben Chehida, A., Elmaleh-Bergès, M., Glasgow, R., Thompson, K., Oláhová, M., He, L., Jenkinson, E., Jahic, A., Belyantseva, I., Barzik, M., Urquhart, J., O'Sullivan, J., Williams, S., Bhaskar, S., Carrera, S., Blakes, A., Banka, S., Yue, W., Ellingford, J., Houlden, H., Munro, K., Friedman, T., Taylor, R., Prokisch, H., O’Keefe, R., Newman, W. 21 Aug 2024
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency, Thomas, H., Demain, L., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H., Rea, A., Bharadwaj, T., Smith, T., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J., Stark, Z., Carrera, S., Yue, W., Munro, K., Alkuraya, F., Jamieson, P., Ahmed, Z., Leal, S., Taylor, R., Wittig, I., O'Keefe, R., Newman, W. 11 Oct 2024
Mitochondrial signalling and homeostasis: from cell biology to neurological disease, Collier, J., Oláhová, M., McWilliams, T., Taylor, R. 1 Feb 2023, In: Trends in Neurosciences

PGR Supervision

Amie Ellis Exploring the Function of Protective Genes and Pathways in Mitochondrial Disease Start Date: 01/10/2024
Mark Cahill Leveraging CRISPR/Cas9 technologies to Understand Mitochondrial-Nuclear communications in Leber Hereditary Optic Neuropathy Start Date: 01/10/2024
Henry Hopper Consequences of Impaired Mitochondrial Division on Human Neural Integrity Start Date: 01/10/2025