Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases

por Chinnery, Patrick F., Gomez-Duran, Aurora
Publicado 2018

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

por Wei, Wei, Gomez-Duran, Aurora, Hudson, Gavin, Chinnery, Patrick F.
Publicado 2017

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

por Wei, Wei, Gomez-Duran, Aurora, Hudson, Gavin, Chinnery, Patrick F.
Publicado 2018

Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases

por Hudson, Gavin, Gomez-Duran, Aurora, Wilson, Ian J., Chinnery, Patrick F.
Publicado 2014

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

por Bicci, Iacopo, Calabrese, Claudia, Golder, Zoe J, Gomez-Duran, Aurora, Chinnery, Patrick F
Publicado 2021

Editorial: Molecular and cellular pathways leading to mitochondrial dysfunction and neurodegeneration: Lessons from in vivo models

por Hannan, Shabab B., Sanchez-Martinez, Alvaro, Brea-Calvo, Gloria, Gomez-Duran, Aurora, Navarro, Juan A.
Publicado 2022

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

por Boczonadi, Veronika, Smith, Paul M., Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F., Horvath, Rita
Publicado 2013

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

por Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita
Publicado 2016

An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank

por Yonova-Doing, Ekaterina, Calabrese, Claudia, Gomez-Duran, Aurora, Schon, Katherine, Wei, Wei, Karthikeyan, Savita, Chinnery, Patrick F., Howson, Joanna M. M.
Publicado 2021

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

por Pezet, Mikael G., Gomez-Duran, Aurora, Klimm, Florian, Aryaman, Juvid, Burr, Stephen, Wei, Wei, Saitou, Mitinori, Prudent, Julien, Chinnery, Patrick F.
Publicado 2021

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

por 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
Publicado 2013

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

por 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
Publicado 2016

Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ

por 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.
Publicado 2017

p38 MAPK priming boosts VSMC proliferation and arteriogenesis by promoting PGC1α-dependent mitochondrial dynamics

por 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.
Publicado 2022

Mitochondrial dysfunction in liver failure requiring transplantation

por 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
Publicado 2016

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

por 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
Publicado 2018

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

por 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
Publicado 2018

Metabolic effects of bezafibrate in mitochondrial disease

por 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
Publicado 2020

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

por 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.
Publicado 2017

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

por 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.
Publicado 2019