檢索結果 - Oláhová, Monika

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

獲取全文 獲取全文 獲取全文

Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways 由 Tang, Jia Xin, Thompson, Kyle, Taylor, Robert W., Oláhová, Monika

獲取全文 獲取全文 獲取全文

Interrogating Mitochondrial Biology and Disease Using CRISPR/Cas9 Gene Editing 由 Tang, Jia-Xin, Pyle, Angela, Taylor, Robert W., Oláhová, Monika

獲取全文 獲取全文 獲取全文

ATG7 safeguards human neural integrity 由 Collier, Jack J., Oláhová, Monika, McWilliams, Thomas G., Taylor, Robert W.

獲取全文 獲取全文 獲取全文

Emerging roles of ATG7 in human health and disease 由 Collier, Jack J, Suomi, Fumi, Oláhová, Monika, McWilliams, Thomas G, Taylor, Robert W

獲取全文 獲取全文 獲取全文

Genome-wide screening identifies new genes required for stress-induced phase 2 detoxification gene expression in animals 由 Crook-McMahon, Helen M, Oláhová, Monika, Button, Emma L, Winter, Johnathan J, Veal, Elizabeth A

獲取全文 獲取全文 獲取全文

A redox-sensitive peroxiredoxin that is important for longevity has tissue- and stress-specific roles in stress resistance 由 Oláhová, Monika, Taylor, Sarah R., Khazaipoul, Siavash, Wang, Jinling, Morgan, Brian A., Matsumoto, Kunihiro, Blackwell, T. Keith, Veal, Elizabeth A.

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Recent advances in understanding the molecular genetic basis of mitochondrial disease 由 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.

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease 由 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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect 由 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

獲取全文 獲取全文 獲取全文