A Perspective on Accelerated Aging Caused by the Genetic Deficiency of the Metabolic Protein, OPA1

由 Erchova, Irina, Sun, Shanshan, Votruba, Marcela
發表在 Front Neurol (2021)

Opa1 Deficiency Promotes Development of Retinal Vascular Lesions in Diabetic Retinopathy

由 Kim, Dongjoon, Votruba, Marcela, Roy, Sayon
發表在 Int J Mol Sci (2021)

Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility

由 Sun, Shanshan, Erchova, Irina, Sengpiel, Frank, Votruba, Marcela
發表在 Invest Ophthalmol Vis Sci (2020)

Potential Therapeutic Benefit of NAD(+) Supplementation for Glaucoma and Age-Related Macular Degeneration

由 Cimaglia, Gloria, Votruba, Marcela, Morgan, James E., André, Helder, Williams, Pete A.
發表在 Nutrients (2020)

Visual and psychological morbidity among patients with autosomal dominant optic atrophy

由 Bailie, Maura, Votruba, Marcela, Griffiths, Philip G, Chinnery, Patrick F, Yu-Wai-Man, Patrick
出版 2013

A neurodegenerative perspective on mitochondrial optic neuropathies

由 Yu-Wai-Man, Patrick, Votruba, Marcela, Burté, Florence, La Morgia, Chiara, Barboni, Piero, Carelli, Valerio
發表在 Acta Neuropathol (2016)

Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy

由 Yu-Wai-Man, Patrick, Davies, Vanessa J., Piechota, Malgorzata J., Cree, Lynsey M., Votruba, Marcela, Chinnery, Patrick F.
出版 2009

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses

由 Majander, Anna, João, Catarina, Rider, Andrew T., Henning, G. Bruce, Votruba, Marcela, Moore, Anthony T., Yu-Wai-Man, Patrick, Stockman, Andrew
發表在 Invest Ophthalmol Vis Sci (2017)

Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1

由 Meschede, Ingrid P., Ovenden, Nicholas C., Seabra, Miguel C., Futter, Clare E., Votruba, Marcela, Cheetham, Michael E., Burgoyne, Thomas
發表在 Proc Natl Acad Sci U S A (2020)

Non-Image-Forming Light Driven Functions Are Preserved in a Mouse Model of Autosomal Dominant Optic Atrophy

由 Perganta, Georgia, Barnard, Alun R., Katti, Christiana, Vachtsevanos, Athanasios, Douglas, Ron H., MacLaren, Robert E., Votruba, Marcela, Sekaran, Sumathi
出版 2013

OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory

由 Bevan, Ryan J, Williams, Pete A, Waters, Caroline T, Thirgood, Rebecca, Mui, Amanda, Seto, Sharon, Good, Mark, Morgan, James E, Votruba, Marcela, Erchova, Irina
發表在 Brain Commun (2020)

OPA1 Mutation and Late-Onset Cardiomyopathy: Mitochondrial Dysfunction and mtDNA Instability

由 Chen, Le, Liu, Tingting, Tran, Alice, Lu, Xiyuan, Tomilov, Alexey A., Davies, Vanessa, Cortopassi, Gino, Chiamvimonvat, Nipavan, Bers, Donald M., Votruba, Marcela, Knowlton, Anne A.
出版 2012

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

由 Jurkute, Neringa, Majander, Anna, Bowman, Richard, Votruba, Marcela, Abbs, Stephen, Acheson, James, Lenaers, Guy, Amati-Bonneau, Patrizia, Moosajee, Mariya, Arno, Gavin, Yu-Wai-Man, Patrick
發表在 Eur J Hum Genet (2018)

Disrupted mitochondrial function in the Opa3(L122P) mouse model for Costeff Syndrome impairs skeletal integrity

由 Navein, Alice E., Cooke, Esther J., Davies, Jennifer R., Smith, Terence G., Wells, Lois H. M., Ohazama, Atsushi, Healy, Christopher, Sharpe, Paul T., Evans, Sam L., Evans, Bronwen A. J., Votruba, Marcela, Wells, Timothy
發表在 Hum Mol Genet (2016)

The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process

由 Rowe, Fiona, Wormald, Richard, Cable, Richard, Acton, Michele, Bonstein, Karen, Bowen, Michael, Bronze, Carol, Bunce, Catey, Conroy, Dolores, Cowan, Katherine, Evans, Kathy, Fenton, Mark, Giles, Heather, Gordon, Iris, Halfhide, Louise, Harper, Robert, Lightstone, Anita, Votruba, Marcela, Waterman, Heather, Zekite, Antra
出版 2014

Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation

由 Diot, Alan, Agnew, Thomas, Sanderson, Jeremy, Liao, Chunyan, Carver, Janet, Neves, Ricardo Pires das, Gupta, Rajeev, Guo, Yanping, Waters, Caroline, Seto, Sharon, Daniels, Matthew J., Dombi, Eszter, Lodge, Tiffany, Morten, Karl, Williams, Suzannah A., Enver, Tariq, Iborra, Francisco J., Votruba, Marcela, Poulton, Joanna
發表在 Front Cell Dev Biol (2018)

Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction

由 Tribble, James R., Otmani, Amin, Sun, Shanshan, Ellis, Sevannah A., Cimaglia, Gloria, Vohra, Rupali, Jöe, Melissa, Lardner, Emma, Venkataraman, Abinaya P., Domínguez-Vicent, Alberto, Kokkali, Eirini, Rho, Seungsoo, Jóhannesson, Gauti, Burgess, Robert W., Fuerst, Peter G., Brautaset, Rune, Kolko, Miriam, Morgan, James E., Crowston, Jonathan G., Votruba, Marcela, Williams, Pete A.
發表在 Redox Biol (2021)

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

由 Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy
發表在 Neurol Genet (2020)

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

由 Liao, Chunyan, Ashley, Neil, Diot, Alan, Morten, Karl, Phadwal, Kanchan, Williams, Andrew, Fearnley, Ian, Rosser, Lyndon, Lowndes, Jo, Fratter, Carl, Ferguson, David J.P., Vay, Laura, Quaghebeur, Gerardine, Moroni, Isabella, Bianchi, Stefania, Lamperti, Costanza, Downes, Susan M., Sitarz, Kamil S., Flannery, Padraig J., Carver, Janet, Dombi, Eszter, East, Daniel, Laura, Matilde, Reilly, Mary M., Mortiboys, Heather, Prevo, Remko, Campanella, Michelangelo, Daniels, Matthew J., Zeviani, Massimo, Yu-Wai-Man, Patrick, Simon, Anna Katharina, Votruba, Marcela, Poulton, Joanna
發表在 Neurology (2017)

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

由 Catarino, Claudia B., von Livonius, Bettina, Priglinger, Claudia, Banik, Rudrani, Matloob, Selma, Tamhankar, Madhura A., Castillo, Lorena, Friedburg, Christoph, Halfpenny, Christopher A., Lincoln, John A., Traber, Ghislaine L., Acaroglu, Gölge, Black, Graeme C. M., Doncel, Carlos, Fraser, Clare L., Jakubaszko, Joanna, Landau, Klara, Langenegger, Stefan J., Muñoz-Negrete, Francisco J., Newman, Nancy J., Poulton, Joanna, Scoppettuolo, Elisabetta, Subramanian, Prem, Toosy, Ahmed T., Vidal, Mariona, Vincent, Andrea L., Votruba, Marcela, Zarowski, Marcin, Zermansky, Adam, Lob, Felice, Rudolph, Günther, Mikazans, Oskars, Silva, Magda, Llòria, Xavier, Metz, Günther, Klopstock, Thomas
發表在 J Neuroophthalmol (2020)