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Items: 4

1.
Autophagy deficiency abolishes liver mitochondrial DNA segregation
Katiane Tostes, Angélica C. dos Santos, Lindomar O. Alves, Luiz R. G. Bechara, Rachel Marascalchi, Carolina H. Macabelli, Mateus P. Grejo, William T. Festuccia, Roberta A. Gottlieb, Julio C. B. Ferreira, Marcos R. Chiaratti
Autophagy. 2022; 18(10): 2397–2408. Published online 2022 Feb 27. doi: 10.1080/15548627.2022.2038501
PMCID:
PMC9542960
AbstractArticlePDF–2.1M
2.
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor
EMBO Mol Med. 2018 Nov; 10(11): e9060. Published online 2018 Sep 10. doi: 10.15252/emmm.201809060
PMCID:
PMC6220311
AbstractArticlePDF–1.2M
3.
Carney Triad, SDH-deficient tumors, and Sdhb+/− mice share abnormal mitochondria
Eva Szarek, Evan R. Ball, Alessio Imperiale, Maria Tsokos, Fabio R. Faucz, Alessio Giubellino, François-Marie Moussallieh, Izzie-Jacques Namer, Mones S. Abu-Asab, Karel Pacak, David Taïeb, J. Aidan Carney, Constantine A. Stratakis
Endocr Relat Cancer. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: Endocr Relat Cancer. 2015 Jun; 22(3): 345–352. Published online 2015 Mar 25. doi: 10.1530/ERC-15-0069
PMCID:
PMC4433412
AbstractArticlePDF–945K
4.
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA
John W. Yarham, Tek N. Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L. Blakely, Helen Griffin, Mauro Santibanez-Koref, Laurence A. Bindoff, Ileana Ferrero, Patrick F. Chinnery, Robert McFarland, Richard J. Maraia, Robert W. Taylor
PLoS Genet. 2014 Jun; 10(6): e1004424. Published online 2014 Jun 5. doi: 10.1371/journal.pgen.1004424
PMCID:
PMC4046958
AbstractArticlePDF–3.3M

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