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

Autor Oláhová, Monika, Veal, Elizabeth A
Vydáno v Aging Cell (2015)

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

Autor Tang, Jia Xin, Thompson, Kyle, Taylor, Robert W., Oláhová, Monika
Vydáno v Int J Mol Sci (2020)

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

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

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

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

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

Autor 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.
Vydáno v Sci Rep (2017)

Recent advances in understanding the molecular genetic basis of mitochondrial disease

Autor 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.
Vydáno v J Inherit Metab Dis (2019)

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

Autor 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.
Vydáno v Neuromuscul Disord (2020)

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Autor 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
Vydáno v Hum Mol Genet (2018)

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

Autor 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
Vydáno v Hum Mol Genet (2019)

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

Autor 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
Vydáno v Eur J Hum Genet (2015)

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

Autor 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.
Vydáno v Hum Genet (2015)

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

Autor 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
Vydáno v EMBO Mol Med (2020)

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

Autor 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
Vydáno v Genet Med (2018)

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

Autor 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.
Vydáno v J Inherit Metab Dis (2016)

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

Autor 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
Vydáno v 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

Autor 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
Vydáno v J Med Genet (2016)

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Autor 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
Vydáno v EMBO Mol Med (2018)

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

Autor 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.
Vydáno v Brain (2015)

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

Autor 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.
Vydáno v Am J Hum Genet (2016)

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Autor 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.
Vydáno v N Engl J Med (2021)