PMC Articles for MedGen (Select 1760275) - PMC

Select item 65056841.

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 62203112.

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

Article PDF–1.2M

Select item 60186223.

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 56301644.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

René G. Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S. Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A. Jourdain, Kyle Thompson, Aaron R. D’Souza, Robert Kopajtich, Charlotte L. Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M. Strom, Saskia B. Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F. Chinnery, Zofia M. Chrzanowska-Lightowlers, Robert N. Lightowlers, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P. Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A. Mayr, Robert W. Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch

Am J Hum Genet. 2017 Oct 5; 101(4): 525–538. Published online 2017 Sep 21. doi: 10.1016/j.ajhg.2017.08.015

PMCID:: PMC5630164

Article PDF–1.7M

Select item 55895075.

Probing GATA factor function in mouse Leydig cells via testicular injection of adenoviral vectors

Gervette M. Penny, Rebecca B. Cochran, Marjut Pihlajoki, Antti Kyrönlahti, Anja Schrade, Merja Häkkinen, Jorma Toppari, Markku Heikinheimo, David B. Wilson

Reproduction. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Reproduction. 2017 Oct; 154(4): 455–467. Published online 2017 Jul 14. doi: 10.1530/REP-17-0311

PMCID:: PMC5589507

Article PDF–2.3M

Select item 1622146.

LRP130, a Pentatricopeptide Motif Protein with a Noncanonical RNA-Binding Domain, Is Bound In Vivo to Mitochondrial and Nuclear RNAs

Stavroula Mili, Serafín Piñol-Roma

Mol Cell Biol. 2003 Jul; 23(14): 4972–4982. doi: 10.1128/MCB.23.14.4972-4982.2003

PMCID:: PMC162214

Article PDF–590K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity