Non-electron transfer chain mitochondrial defects differently regulate HIF-1α degradation and transcription

Autor: Shvetsova, Antonina N., Mennerich, Daniela, Kerätär, Juha M., Hiltunen, J. Kalervo, Kietzmann, Thomas

Publikováno v: In Redox Biology August 2017 12:1052-1061

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Autor: Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Annable, Marcus, Blue, Elizabeth Marchani, Buckingham, Kati J., Chin, Jennifer, Chong, Jessica X., Cornejo, Rodolfo, Jr., Davis, Colleen P., Frazar, Christopher, He, Zongxiao, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Kolar, Tom, Krauter, Stephanie A., Luksic, Daniel, Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Robertson, Peggy D., Santos-Cortez, Regie, Shankar, Aditi, Slattery, Krystal, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Tackett, Monica, Wang, Gao, Wegener, Marc, Weiss, Jeffrey M., Wernick, Riana I., Wheeler, Marsha M., Yi, Qian, Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.

Publikováno v: In The American Journal of Human Genetics 1 December 2016 99(6):1229-1244

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