51��

PhD Monika Winter

Assistant Professor

School: Geography and Natural Sciences

Key Publications

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
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. 29 Jun 2025, In: Clinical Genetics
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
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54, Smith, T., Rea, A., Thomas, H., Thompson, K., Oláhová, M., Maroofian, R., Zamani, M., He, L., Sadeghian, S., Galehdari, H., Lotan, N., Gilboa, T., Herman, K., McCorvie, T., Yue, W., Houlden, H., Taylor, R., Newman, W., O’Keefe, R. 1 Oct 2023, In: European Journal of Human Genetics

PGR Supervision

Mark Cahill Doctorate of Philosophy Start Date: 01/10/2024
Henry Hopper Consequences of Impaired Mitochondrial Division on Human Neural Integrity Start Date: 01/10/2025
Amie Ellis Exploring the Function of Protective Genes and Pathways in Mitochondrial Disease Start Date: 01/10/2024

Our Staff

Latest News and Features

Professor Malcolm von Schantz

In Memory of Professor Malcolm von Schantz

31.10.25

It is with profound sadness that we announce the passing of Professor Malcolm von Schantz.…

Views of Antarctica. Photo by Professor Andrew Shepherd, CPOM.

New funding for international research projecting ice sheet loss and sea level rise

30.10.25

Melt from ice sheets on Earth is already contributing to flooding across the globe and is expected…

Business Clinic with EY

Students gain invaluable work experience

28.10.25

Students from 51�� Business Clinic have gained invaluable work experience…

Exterior of the U.S. National Science Foundation (NSF) Daniel K. Inouye Solar Telescope in Hawaii. Credit: NSF/NSO/AURA

Discovery of elusive solar waves that could power the Sun's corona

24.10.25

Researchers have achieved a breakthrough in solar physics by providing the first direct evidence…

51�� Business Campus

North East university joins leading northern health partnership

23.10.25

51�� has joined the Northern Health Science Alliance (NHSA), a partnership…

George Clarke appointed new Chancellor of 51��

20.10.25

The renowned architect, author and TV presenter George Clarke has been appointed as the new…

More news

More events

Upcoming events

Not Your Usual Design

Nov
19

Not Your Usual Design

Lecture Theatre 401

5.30pm - 6.30pm

Christmas Market and Tree lighting

Nov
25

Christmas Market and Tree lighting

51��

1pm - 6pm

CHASE LECTURE - D6: Culture in Transit

Nov
26

CHASE LECTURE - D6: Culture in Transit

CCE1, Lecture Theatre 002

6pm - 8pm

Collaborating for Capability: Shaping the Future of Supply Chain Talent

Nov
27

Collaborating for Capability: Shaping the Future of Supply Chain Talent

The Great Hall, 1st Floor Sutherland Building

9.30am - 12pm

Back to top