A peroxiredoxin, PRDX-2, is required for insulin secretion and insulin/IIS-dependent regulation of stress resistance and longevity

por Oláhová, Monika, Veal, Elizabeth A
Publicado en Aging Cell (2015)

Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways

por Tang, Jia Xin, Thompson, Kyle, Taylor, Robert W., Oláhová, Monika
Publicado en Int J Mol Sci (2020)

Genome-wide screening identifies new genes required for stress-induced phase 2 detoxification gene expression in animals

por Crook-McMahon, Helen M, Oláhová, Monika, Button, Emma L, Winter, Johnathan J, Veal, Elizabeth A
Publicado 2014

A redox-sensitive peroxiredoxin that is important for longevity has tissue- and stress-specific roles in stress resistance

por Oláhová, Monika, Taylor, Sarah R., Khazaipoul, Siavash, Wang, Jinling, Morgan, Brian A., Matsumoto, Kunihiro, Blackwell, T. Keith, Veal, Elizabeth A.
Publicado 2008

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

por Ahmed, Syeda T., Alston, Charlotte L., Hopton, Sila, He, Langping, Hargreaves, Iain P., Falkous, Gavin, Oláhová, Monika, McFarland, Robert, Turnbull, Doug M., Rocha, Mariana C., Taylor, Robert W.
Publicado en Sci Rep (2017)

Recent advances in understanding the molecular genetic basis of mitochondrial disease

por Thompson, Kyle, Collier, Jack J., Glasgow, Ruth I. C., Robertson, Fiona M., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Oláhová, Monika, McFarland, Robert, Taylor, Robert W.
Publicado en J Inherit Metab Dis (2019)

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

por Lim, Albert Z., McMacken, Grace, Rastelli, Francesca, Oláhová, Monika, Baty, Karen, Hopton, Sila, Falkous, Gavin, Töpf, Ana, Lochmüller, Hanns, Marini-Bettolo, Chiara, McFarland, Robert, Taylor, Robert W.
Publicado en Neuromuscul Disord (2020)

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

por Peter, Bradley, Waddington, Christie L, Oláhová, Monika, Sommerville, Ewen W, Hopton, Sila, Pyle, Angela, Champion, Michael, Ohlson, Monica, Siibak, Triinu, Chrzanowska-Lightowlers, Zofia M A, Taylor, Robert W, Falkenberg, Maria, Lightowlers, Robert N
Publicado en Hum Mol Genet (2018)

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

por Oláhová, Monika, Berti, Camilla Ceccatelli, Collier, Jack J, Alston, Charlotte L, Jameson, Elisabeth, Jones, Simon A, Edwards, Noel, He, Langping, Chinnery, Patrick F, Horvath, Rita, Goffrini, Paola, Taylor, Robert W, Sayer, John A
Publicado en Hum Mol Genet (2019)

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

por Oláhová, Monika, Haack, Tobias B, Alston, Charlotte L, Houghton, Jessica AC, He, Langping, Morris, Andrew AM, Brown, Garry K, McFarland, Robert, Chrzanowska-Lightowlers, Zofia MA, Lightowlers, Robert N, Prokisch, Holger, Taylor, Robert W
Publicado en Eur J Hum Genet (2015)

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

por Alston, Charlotte L., Ceccatelli Berti, Camilla, Blakely, Emma L., Oláhová, Monika, He, Langping, McMahon, Colin J., Olpin, Simon E., Hargreaves, Iain P., Nolli, Cecilia, McFarland, Robert, Goffrini, Paola, O’Sullivan, Maureen J., Taylor, Robert W.
Publicado en Hum Genet (2015)

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

por Alahmad, Ahmad, Nasca, Alessia, Heidler, Juliana, Thompson, Kyle, Oláhová, Monika, Legati, Andrea, Lamantea, Eleonora, Meisterknecht, Jana, Spagnolo, Manuela, He, Langping, Alameer, Seham, Hakami, Fahad, Almehdar, Abeer, Ardissone, Anna, Alston, Charlotte L, McFarland, Robert, Wittig, Ilka, Ghezzi, Daniele, Taylor, Robert W
Publicado en EMBO Mol Med (2020)

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

por Boczonadi, Veronika, King, Martin S., Smith, Anthony C., Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G., Pyle, Angela, Griffin, Helen, Taylor, Robert W., Chinnery, Patrick F., Robinson, Alan J., Kunji, Edmund R.S., Horvath, Rita
Publicado en Genet Med (2018)

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

por Oláhová, Monika, Thompson, Kyle, Hardy, Steven A., Barbosa, Inês A., Besse, Arnaud, Anagnostou, Maria-Eleni, White, Kathryn, Davey, Tracey, Simpson, Michael A., Champion, Michael, Enns, Greg, Schelley, Susan, Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M. A., McFarland, Robert, Deshpande, Charu, Bonnen, Penelope E., Taylor, Robert W.
Publicado en J Inherit Metab Dis (2016)

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

por Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W
Publicado en Hum Mol Genet (2019)

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

por Alston, Charlotte L, Howard, Caoimhe, Oláhová, Monika, Hardy, Steven A, He, Langping, Murray, Philip G, O'Sullivan, Siobhan, Doherty, Gary, Shield, Julian P H, Hargreaves, Iain P, Monavari, Ardeshir A, Knerr, Ina, McCarthy, Peter, Morris, Andrew A M, Thorburn, David R, Prokisch, Holger, Clayton, Peter E, McFarland, Robert, Hughes, Joanne, Crushell, Ellen, Taylor, Robert W
Publicado en J Med Genet (2016)

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

por Thompson, Kyle, Mai, Nicole, Oláhová, Monika, Scialó, Filippo, Formosa, Luke E, Stroud, David A, Garrett, Madeleine, Lax, Nichola Z, Robertson, Fiona M, Jou, Cristina, Nascimento, Andres, Ortez, Carlos, Jimenez‐Mallebrera, Cecilia, Hardy, Steven A, He, Langping, Brown, Garry K, Marttinen, Paula, McFarland, Robert, Sanz, Alberto, Battersby, Brendan J, Bonnen, Penelope E, Ryan, Michael T, Chrzanowska‐Lightowlers, Zofia MA, Lightowlers, Robert N, Taylor, Robert W
Publicado en EMBO Mol Med (2018)

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

por Oláhová, Monika, Hardy, Steven A., Hall, Julie, Yarham, John W., Haack, Tobias B., Wilson, William C., Alston, Charlotte L., He, Langping, Aznauryan, Erik, Brown, Ruth M., Brown, Garry K., Morris, Andrew A. M., Mundy, Helen, Broomfield, Alex, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Moeslinger, Dorothea, Koch, Johannes, Stettner, Georg M., Bonnen, Penelope E., Prokisch, Holger, Lightowlers, Robert N., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Taylor, Robert W.
Publicado en Brain (2015)

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

por Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Romain, Nadine, Yarham, John W., He, Langping, De Paepe, Boel, Vanlander, Arnaud V., Seneca, Sara, Feichtinger, René G., Płoski, Rafal, Rokicki, Dariusz, Pronicka, Ewa, Haller, Ronald G., Van Hove, Johan L.K., Bahlo, Melanie, Mayr, Johannes A., Van Coster, Rudy, Prokisch, Holger, Wittig, Ilka, Ryan, Michael T., Thorburn, David R., Taylor, Robert W.
Publicado en Am J Hum Genet (2016)

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

por Collier, Jack J., Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M., Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M., Alsaif, Hessa S., Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A., Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S., Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G., Koenig, Michel, Taylor, Robert W.
Publicado en N Engl J Med (2021)