PMC Articles for MedGen (Select 1648484) - PMC

Select item 95429601.

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

Article PDF–2.1M

Select item 82080432.

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant

Tonya Moss, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Marie McDonald, Michael Friez, Allyn McConkie-Rosell, Richard Steet

Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006081. doi: 10.1101/mcs.a006081

PMCID:: PMC8208043

Article PDF–4.9M

Select item 65056843.

Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7

Karthik Mohanraj, Michal Wasilewski, Cristiane Benincá, Dominik Cysewski, Jaroslaw Poznanski, Paulina Sakowska, Zaneta Bugajska, Markus Deckers, Sven Dennerlein, Erika Fernandez‐Vizarra, Peter Rehling, Michal Dadlez, Massimo Zeviani, Agnieszka Chacinska

EMBO Mol Med. 2019 May; 11(5): e9561. Published online 2019 Mar 18. doi: 10.15252/emmm.201809561

PMCID:: PMC6505684

Article PDF–2.3M

Select item 60186224.

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

C. Quadalti, D. Brunetti, I. Lagutina, R. Duchi, A. Perota, G. Lazzari, R. Cerutti, I. Di Meo, M. Johnson, E. Bottani, P. Crociara, C. Corona, S. Grifoni, V. Tiranti, E. Fernandez-Vizarra, A.J. Robinson, C. Viscomi, C. Casalone, M. Zeviani, C. Galli

Biochim Biophys Acta. 2018 Jun; 1864(6Part A): 2131–2142. doi: 10.1016/j.bbadis.2018.03.021

PMCID:: PMC6018622

Article

Select item 58862885.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Caterina Garone, Aaron R D’Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk

Hum Mol Genet. 2017 Nov 1; 26(21): 4257–4266. Published online 2017 Aug 25. doi: 10.1093/hmg/ddx314