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Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Autor: Johnson, Jennifer L., Stoica, Loredana, Liu, Yuwei, Zhu, Ping Jun, Bhattacharya, Abhisek, Buffington, Shelly A., Huq, Redwan, Eissa, N. Tony, Larsson, Ola, Porse, Bo T., Domingo, Deepti, Nawaz, Urwah, Carroll, Renee, Jolly, Lachlan, Scerri, Tom S., Kim, Hyung-Goo, Brignell, Amanda, Coleman, Matthew J., Braden, Ruth, Kini, Usha, Jackson, Victoria, Baxter, Anne, Bahlo, Melanie, Scheffer, Ingrid E., Amor, David J., Hildebrand, Michael S., Bonnen, Penelope E., Beeton, Christine, Gecz, Jozef, Morgan, Angela T., Costa-Mattioli, Mauro

Publikováno v: In Neuron 20 November 2019 104(4):665-679

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Autor: Thompson, Kyle, Majd, Homa, Dallabona, Cristina, Reinson, Karit, King, Martin S., Alston, Charlotte L., He, Langping, Lodi, Tiziana, Jones, Simon A., Fattal-Valevski, Aviva, Fraenkel, Nitay D., Saada, Ann, Haham, Alon, Isohanni, Pirjo, Vara, Roshni, Barbosa, Inês A., Simpson, Michael A., Deshpande, Charu, Puusepp, Sanna, Bonnen, Penelope E., Rodenburg, Richard J., Suomalainen, Anu, Õunap, Katrin, Elpeleg, Orly, Ferrero, Ileana, McFarland, Robert, Kunji, Edmund R.S., Taylor, Robert W.

Publikováno v: In The American Journal of Human Genetics 6 October 2016 99(4):860-876

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Autor: Stiles, Ashlee R., Ferdinandusse, Sacha, Besse, Arnaud, Appadurai, Vivek, Leydiker, Karen B., Cambray-Forker, E.J., Bonnen, Penelope E., Abdenur, Jose E.

Publikováno v: In Molecular Genetics and Metabolism August 2015 115(4):161-167

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Autor: Bale, Sherri, Bedoyan, Jirair, Behar, Doron, Bonnen, Penelope, Brooks, Lisa, Calabrese, Claudia, Calvo, Sarah, Chinnery, Patrick, Christodoulou, John, Church, Deanna, Clima, Rosanna, Cohen, Bruce H., Cotton, Richard G., de Coo, I.F.M., Derbenevoa, Olga, den Dunnen, Johan T., Dimmock, David, Enns, Gregory, Gasparre, Giuseppe, Goldstein, Amy, Gonzalez, Iris, Gwinn, Katrina, Hahn, Sihoun, Haas, Richard H., Hakonarson, Hakon, Hirano, Michio, Kerr, Douglas, Li, Dong, Lvova, Maria, Macrae, Finley, Maglott, Donna, McCormick, Elizabeth, Mitchell, Grant, Mootha, Vamsi K., Okazaki, Yasushi, Pujol, Aurora, Parisi, Melissa, Perin, Juan Carlos, Pierce, Eric A., Procaccio, Vincent, Rahman, Shamima, Reddi, Honey, Rehm, Heidi, Riggs, Erin, Rodenburg, Richard, Rubinstein, Yaffa, Saneto, Russell, Santorsola, Mariangela, Scharfe, Curt, Sheldon, Claire, Shoubridge, Eric A., Simone, Domenico, Smeets, Bert, Smeitink, Jan A., Stanley, Christine, Suomalainen, Anu, Tarnopolsky, Mark, Thiffault, Isabelle, Thorburn, David R., Van Hove, Johan, Wolfe, Lynne, Wong, Lee-Jun, Falk, Marni J., Shen, Lishuang, Gonzalez, Michael, Leipzig, Jeremy, Lott, Marie T., Stassen, Alphons P.M., Diroma, Maria Angela, Navarro-Gomez, Daniel, Yeske, Philip, Bai, Renkui, Boles, Richard G., Brilhante, Virginia, Ralph, David, DaRe, Jeana T., Shelton, Robert, Terry, Sharon F., Zhang, Zhe, Copeland, William C., van Oven, Mannis, Prokisch, Holger, Wallace, Douglas C., Attimonelli, Marcella, Krotoski, Danuta, Zuchner, Stephan, Gai, Xiaowu

Publikováno v: In Molecular Genetics and Metabolism March 2015 114(3):388-396