Søgeresultater - Gomez-Duran, Aurora

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  1. 1
    Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases

    Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases af Chinnery, Patrick F., Gomez-Duran, Aurora

    Udgivet 2018
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  2. 2
    Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

    Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations af Wei, Wei, Gomez-Duran, Aurora, Hudson, Gavin, Chinnery, Patrick F.

    Udgivet 2017
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  3. 3
    Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

    Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations af Wei, Wei, Gomez-Duran, Aurora, Hudson, Gavin, Chinnery, Patrick F.

    Udgivet 2018
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  4. 4
    Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases

    Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases af Hudson, Gavin, Gomez-Duran, Aurora, Wilson, Ian J., Chinnery, Patrick F.

    Udgivet 2014
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  5. 5
    Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues

    Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues af Bicci, Iacopo, Calabrese, Claudia, Golder, Zoe J, Gomez-Duran, Aurora, Chinnery, Patrick F

    Udgivet 2021
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  6. 6
    Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

    Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency af Boczonadi, Veronika, Smith, Paul M., Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F., Horvath, Rita

    Udgivet 2013
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  7. 7
    Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

    Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy af Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita

    Udgivet 2016
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  8. 8
    An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank

    An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank af Yonova-Doing, Ekaterina, Calabrese, Claudia, Gomez-Duran, Aurora, Schon, Katherine, Wei, Wei, Karthikeyan, Savita, Chinnery, Patrick F., Howson, Joanna M. M.

    Udgivet 2021
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  9. 9
    Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro

    Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro af Pezet, Mikael G., Gomez-Duran, Aurora, Klimm, Florian, Aryaman, Juvid, Burr, Stephen, Wei, Wei, Saitou, Mitinori, Prudent, Julien, Chinnery, Patrick F.

    Udgivet 2021
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  10. 10
    Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

    Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT af Neeve, Vivienne C.M., Pyle, Angela, Boczonadi, Veronika, Gomez-Duran, Aurora, Griffin, Helen, Santibanez-Koref, Mauro, Gaiser, Ulrike, Bauer, Peter, Tzschach, Andreas, Chinnery, Patrick F., Horvath, Rita

    Udgivet 2013
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  11. 11
    The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages

    The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages af Zhu, Lili, Gomez-Duran, Aurora, Saretzki, Gabriele, Jin, Shibo, Tilgner, Katarzyna, Melguizo-Sanchis, Dario, Anyfantis, Georgios, Al-Aama, Jumana, Vallier, Ludovic, Chinnery, Patrick, Lako, Majlinda, Armstrong, Lyle

    Udgivet 2016
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  12. 12
    Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ

    Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ af Widdrington, John D., Gomez-Duran, Aurora, Steyn, Jannetta S., Pyle, Angela, Ruchaud-Sparagano, Marie-Helene, Scott, Jonathan, Baudouin, Simon V., Rostron, Anthony J., Simpson, John, Chinnery, Patrick F.

    Udgivet 2017
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  13. 13
    p38 MAPK priming boosts VSMC proliferation and arteriogenesis by promoting PGC1α-dependent mitochondrial dynamics

    p38 MAPK priming boosts VSMC proliferation and arteriogenesis by promoting PGC1α-dependent mitochondrial dynamics af Sahún-Español, Álvaro, Clemente, Cristina, Jiménez-Loygorri, Juan Ignacio, Sierra-Filardi, Elena, Herrera-Melle, Leticia, Gómez-Durán, Aurora, Sabio, Guadalupe, Monsalve, María, Boya, Patricia, Arroyo, Alicia G.

    Udgivet 2022
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  14. 14
    Mitochondrial dysfunction in liver failure requiring transplantation

    Mitochondrial dysfunction in liver failure requiring transplantation af Lane, Maria, Boczonadi, Veronika, Bachtari, Sahar, Gomez-Duran, Aurora, Langer, Thorsten, Griffiths, Alexandra, Kleinle, Stephanie, Dineiger, Christine, Abicht, Angela, Holinski-Feder, Elke, Schara, Ulrike, Gerner, Patrick, Horvath, Rita

    Udgivet 2016
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  15. 15
    Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses

    Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses af Widdrington, John D., Gomez-Duran, Aurora, Pyle, Angela, Ruchaud-Sparagano, Marie-Helene, Scott, Jonathan, Baudouin, Simon V., Rostron, Anthony J., Lovat, Penny E., Chinnery, Patrick F., Simpson, A. John

    Udgivet 2018
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  16. 16
    Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

    Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family af Kullar, Peter J, Gomez-Duran, Aurora, Gammage, Payam A, Garone, Caterina, Minczuk, Michal, Golder, Zoe, Wilson, Janet, Montoya, Julio, Häkli, Sanna, Kärppä, Mikko, Horvath, Rita, Majamaa, Kari, Chinnery, Patrick F

    Udgivet 2018
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  17. 17
    Metabolic effects of bezafibrate in mitochondrial disease

    Metabolic effects of bezafibrate in mitochondrial disease af Steele, Hannah, Gomez‐Duran, Aurora, Pyle, Angela, Hopton, Sila, Newman, Jane, Stefanetti, Renae J, Charman, Sarah J, Parikh, Jehill D, He, Langping, Viscomi, Carlo, Jakovljevic, Djordje G, Hollingsworth, Kieren G, Robinson, Alan J, Taylor, Robert W, Bottolo, Leonardo, Horvath, Rita, Chinnery, Patrick F

    Udgivet 2020
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  18. 18
    Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

    Mutations in mitochondrial DNA causing tubulointerstitial kidney disease af Connor, Thomas M., Hoer, Simon, Mallett, Andrew, Gale, Daniel P., Gomez-Duran, Aurora, Posse, Viktor, Antrobus, Robin, Moreno, Pablo, Sciacovelli, Marco, Frezza, Christian, Duff, Jennifer, Sheerin, Neil S., Sayer, John A., Ashcroft, Margaret, Wiesener, Michael S., Hudson, Gavin, Gustafsson, Claes M., Chinnery, Patrick F., Maxwell, Patrick H.

    Udgivet 2017
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  19. 19
    Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila

    Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila af Andreazza, Simonetta, Samstag, Colby L., Sanchez-Martinez, Alvaro, Fernandez-Vizarra, Erika, Gomez-Duran, Aurora, Lee, Juliette J., Tufi, Roberta, Hipp, Michael J., Schmidt, Elizabeth K., Nicholls, Thomas J., Gammage, Payam A., Chinnery, Patrick F., Minczuk, Michal, Pallanck, Leo J., Kennedy, Scott R., Whitworth, Alexander J.

    Udgivet 2019
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  20. 20
    Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

    Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene af Pyle, Angela, Ramesh, Venkateswaran, Bartsakoulia, Marina, Boczonadi, Veronika, Gomez-Duran, Aurora, Herczegfalvi, Agnes, Blakely, Emma L., Smertenko, Tania, Duff, Jennifer, Eglon, Gail, Moore, David, Yu-Wai-Man, Patrick, Douroudis, Konstantinos, Santibanez-Koref, Mauro, Griffin, Helen, Lochmüller, Hanns, Karcagi, Veronika, Taylor, Robert W., Chinnery, Patrick F., Horvath, Rita

    Udgivet 2014
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