Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

Autor: Casarin Alberto, Giorgi Gianpietro, Pertegato Vanessa, Siviero Roberta, Cerqua Cristina, Doimo Mara, Basso Giuseppe, Sacconi Sabrina, Cassina Matteo, Rizzuto Rosario, Brosel Sonja, M Davidson Mercy, DiMauro Salvatore, Schon Eric A, Clementi Maurizio, Trevisson Eva, Salviati Leonardo

Publikováno v: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 21 (2012)

Abstract Background Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the defect in patient

Externí odkaz: https://doaj.org/article/ac915d6223bd4d07b6a01ec8d34fd9d8

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Chapter 31 - The mitochondrial genome

Autor: Schon, Eric A.

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:491-503

List of Contributors

Autor: Abbott, M.A., Akamatsu, Wado, Akman, Hasan Orhan, AlHakeem, Afnan, Ali, Sheliza, AlMutiri, Rowim, Aoyama, Koji, Artuch, Rafael, Aumont-Rodrigue, Gabriel, Baril, Andrée-Ann, Barshop, Bruce A., Beck, Michael, Bennett, C. Frank, Berry, Gerard T., Boitnott, Andrea, Calame, Daniel G., Canine, Brenda, Casy, Widler, Chinnery, Patrick F., Chuang, David T., De Jager, Philip L., Demirbas, Didem, Desnick, Robert J., DiMauro, Salvatore, d’Azzo, A., Eichler, Florian S., Elmquist, Joel K., Emmanuele, Valentina, Engelen, Marc, Esteves, S., Evans, Patricia, Fogel, Brent L., Fremuth, L.E., Gallagher, J., García-Cazorla, Àngels, Garza, Irvin T., Glueck, Amanda C., Golla, Sailaja, Goodarzi, Mohammad, Goodspeed, Kimberly, Gray, Steven J., Gray-Edwards, H., Gropman, Andrea L., Guerrini, Renzo, Guldner, Ian H., Gunn, Teresa M., Haffner, Darrah, Hagerman, R.J., Harel, Tamar, Harp, Jordan P., Head, Elizabeth, Horvath, Rita, Ishii, Makoto, Ishiura, Hiroyuki, Jakkamsetti, Vikram, Jalazo, Elizabeth R., Khorkova, Olga, Kinoshita, Chisato, Kukull, Walter A., Lane, Roger, Latham, Stephen R., Leigh, M.J., Ling, Qinglan, Lupski, James R., Luzi, Paola, Ma, Qian, Maegawa, Gustavo H.B., Marin-Valencia, Isaac, Mastrianni, James A., Matalon, Dena R., Matalon, Kimberlee Michals, Matalon, Reuben, Mathews, Jennifer M., Megagiannis, Platon, Mehta, Nikita, Meltzer, Meira R., Mengel, Eugen, Mew, Nicholas Ah, Millar Vernetti, Patricio, Mitsui, Jun, Monteggia, Lisa M., Morris, Mary Ann, Moser, Hugo W., Murray, Melissa E., Nakaki, Toshio, Nishino, Ichizo, Noble, Denis, Nussbaum, Robert L., Nyhan, William L., Okano, Hideyuki, Parrini, Elena, Pascual, Juan M., Pastores, Gregory M., Patterson, Marc C., Piazza, Michelle K., Picard, Cynthia, Poirier, Judes, Pomerantz, Daniel J., Posey, Jennifer E., Raymond, Gerald V., Renthal, William, Rossignol, Francis, Rouleau, Guy A., Saez-Calveras, Nil, Sandhoff, Konrad, Schiffmann, Raphael, Schindler, Detlev, Schmitt, Frederick A., Schon, Eric A., Schuchman, Edward H., Seashore, Margretta Reed, Sena-Esteves, M., Shaffo, Frances C., Shevell, Michael, Shishodia, Gauri, Sinnett, Sarah E., Srour, Myriam, Stevens, Hannah A., Sugie, Kazuma, Taylor, Alexa, Tedeschi Dauar, Marina, Thinwa, Josephine, Tifft, C., Tsuji, Shoji, Uhlmann, Wendy R., Van Pelt, Kathryn L., Vemuri, Prashanthi, Vernino, Steven, Wahlestedt, Claes, Wang, Bruce, Weesner, J.A., Wenger, David A., Williams, Kevin W., Wolf, Nicole I., Wolfe, John H., Wynn, R. Max, Wyss-Coray, Tony, Yingling, N., Zhou, Yang

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:xix-xxiii

Mitochondrial Nucleoids Maintain Genetic Autonomy but Allow for Functional Complementation

Autor: Gilkerson, Robert W., Schon, Eric A., Hernandez, Evelyn, Davidson, Mercy M.

Publikováno v: The Journal of Cell Biology, 2008 Jun . 181(7), 1117-1128.

Externí odkaz: https://www.jstor.org/stable/20476006