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SaveModelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity
Corra, Samantha; Zuppardo, Alessandro; Valenzuela, Sebastian; Jenninger, Louise; Cerutti, Raffaele; Sillamaa, Sirelin; Hoberg, Emily; Johansson, Katarina A. S.; Rovsnik, Urska; Volta, Sara; Silva-Pinheiro, Pedro; Davis, Hannah; Trifunovic, Aleksandra; Minczuk, Michal; Gustafsson, Claes M.; Suomalainen, Anu; Zeviani, Massimo; Macao, Bertil; Zhu, Xuefeng; Falkenberg, Maria; Viscomi, Carlo Share Save Redox cycler based therapeutic option against mitochondrial pathologies linked to respiratory chain dysfunctionBonesso, Daniele; Donadon, Michael; Rossa, Andrea; Biasutto, Lucia; Favero, Marta; Mattarei, Andrea; Iozzo, Marta; Santi, Alice; Purhonene, Janne; Giannoni, Elisa; Chiarugi, Paola; Kalljarvi, Jukka; Calura, Enrica; Zeviani, Massimo; Viscomi, Carlo; Szabo, Ildiko Share Save Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondriaAl Rawi, Sara; Simpson, Lorna; Agnarsdottir, Guorun; Mcdonald, Neil Q.; Chernuha, Veronika; Elpeleg, Orly; Zeviani, Massimo; Barker, Roger A.; Spiegel, Ronen; Laman, Heike Share Save Share Save Share Save Two independent respiratory chains adapt OXPHOS performance to glycolytic switchFernandez-Vizarra, Erika; Lopez-Calcerrada, Sandra; Sierra-Magro, Ana; Perez-Perez, Rafael; Formosa, Luke E.; Hock, Daniella H.; Illescas, Maria; Penas, Ana; Brischigliaro, Michele; Ding, Shujing; Fearnley, Ian M.; Tzoulis, Charalampos; Pitceathly, Robert D. S.; Arenas, Joaquin; Martin, Miguel A.; Stroud, David A.; Zeviani, Massimo; Ryan, Michael T.; Ugalde, Cristina Share Save The role of SURF1 protein in cytochrome c oxidase biogenesisRodriguez, Maria Jose Saucedo; Pecina, Petr; Cunatova, Kristyna; Vrbacky, Marek; Pecinova, Alena; Sobotka, Roman; Viscomi, Carlo; Zeviani, Massimo; Mracek, Tomas; Houstek, Josef Share Save Share Save Share Save Share Save CG7630 is the Drosophila melanogaster homolog of the cytochrome c oxidase subunit COX7BBrischigliaro, Michele; Cabrera-Orefice, Alfredo; Sturlese, Mattia; Elurbe, Dei M.; Frigo, Elena; Fernandez-Vizarra, Erika; Moro, Stefano; Huynen, Martijn A.; Arnold, Susanne; Viscomi, Carlo; Zeviani, Massimo Share Save Share Save Share Save Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaYap, Zheng Yie; Efthymiou, Stephanie; Seiffert, Simone; Parra, Karen Vargas; Lee, Sukyeong; Nasca, Alessia; Maroofian, Reza; Schrauwen, Isabelle; Pendziwiat, Manuela; Jung, Sunhee; Bhoj, Elizabeth; Striano, Pasquale; Mankad, Kshitij; Vona, Barbara; Cuddapah, Sanmati; Wagner, Anja; Alvi, Javeria Raza; Davoudi-Dehaghani, Elham; Fallah, Mohammad-Sadegh; Gannavarapu, Srinitya; Lamperti, Costanza; Legati, Andrea; Murtaza, Bibi Nazia; Nadeem, Muhammad Shahid; Rehman, Mujaddad Ur; Saeidi, Kolsoum; Salpietro, Vincenzo; von Spiczak, Sarah; Sandoval, Abigail; Zeinali, Sirous; Zeviani, Massimo; Reich, Adi; Jang, Cholsoon; Helbig, Ingo; Barakat, Tahsin Stefan; Ghezzi, Daniele; Leal, Suzanne M.; Weber, Yvonne; Houlden, Henry; Yoon, Wan Hee Share Save Share Save DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion (vol 49, pg 5230, 2021)Silva-Pinheiro, Pedro; Pardo-Hernandez, Carlos; Reyes, Aurelio; Tilokani, Lisa; Mishra, Anup; Cerutti, Raffaele; Li, Shuaifeng; Rozsivalova, Dieu-Hien; Valenzuela, Sebastian; Dogan, Sukru A.; Peter, Bradley; Fernandez-Silva, Patricio; Trifunovic, Aleksandra; Prudent, Julien; Minczuk, Michal; Bindoff, Laurence; Macao, Bertil; Zeviani, Massimo; Falkenberg, Maria; Viscomi, Carlo Share Save Share Save SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFIKO cellsFernandez-Vizarra, Erika; Lopez-Calcerrada, Sandra; Formosa, Luke E.; Perez-Perez, Rafael; Ding, Shujing; Fearnley, Ian M.; Arenas, Joaquin; Martin, Miguel A.; Zeviani, Massimo; Ryan, Michael T.; Ugalde, Cristina Share Save Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3Invernizzi, Federica; Legati, Andrea; Nasca, Alessia; Lamantea, Eleonora; Garavaglia, Barbara; Gusic, Mirjana; Kopajtich, Robert; Prokisch, Holger; Zeviani, Massimo; Lamperti, Costanza; Ghezzi, Daniele Share Save 
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