PMC Articles for MedGen (Select 1624694) - PMC

Select item 73513131.

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

Min Ni, Ashley Solmonson, Chunxiao Pan, Chendong Yang, Dan Li, Ashley Notzon, Ling Cai, Gerardo Guevara, Lauren G. Zacharias, Brandon Faubert, Hieu S. Vu, Lei Jiang, Bookyung Ko, Noriko Merida Morales, Jimin Pei, Gonçalo Vale, Dinesh Rakheja, Nick V. Grishin, Jeffrey G. McDonald, Garrett K. Gotway, Markey C. McNutt, Juan M. Pascual, Ralph J. DeBerardinis

Cell Rep. Author manuscript; available in PMC 2020 Jul 10.

Published in final edited form as: Cell Rep. 2019 Apr 30; 27(5): 1376–1386.e6. doi: 10.1016/j.celrep.2019.04.005

PMCID:: PMC7351313

Abstract Article PDF–1.6M

Select item 55443882.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Florence Habarou, Yamina Hamel, Tobias B. Haack, René G. Feichtinger, Elise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole-Feysot, Patrick Nitschke, Nicolas Goudin, Nathalie Boddaert, Ivan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J. Rodenburg, G. Christoph Korenke, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Agnes Rotig, Chris Ottolenghi, Johannes A. Mayr, Pascale de Lonlay

Am J Hum Genet. 2017 Aug 3; 101(2): 283–290. Published online 2017 Jul 27. doi: 10.1016/j.ajhg.2017.07.001

PMCID:: PMC5544388

Abstract Article PDF–1.0M

Select item 53994153.

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A. Eklund, Vineta Fellman

Orphanet J Rare Dis. 2017; 12: 73. Published online 2017 Apr 20. doi: 10.1186/s13023-017-0624-2

PMCID:: PMC5399415

Abstract Article PDF–7.5M

Select item 46553434.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Monika Oláhová, Steven A. Hardy, Julie Hall, John W. Yarham, Tobias B. Haack, William C. Wilson, Charlotte L. Alston, Langping He, Erik Aznauryan, Ruth M. Brown, Garry K. Brown, Andrew A. M. Morris, Helen Mundy, Alex Broomfield, Ines A. Barbosa, Michael A. Simpson, Charu Deshpande, Dorothea Moeslinger, Johannes Koch, Georg M. Stettner, Penelope E. Bonnen, Holger Prokisch, Robert N. Lightowlers, Robert McFarland, Zofia M. A. Chrzanowska-Lightowlers, Robert W. Taylor

Brain. 2015 Dec; 138(12): 3503–3519. Published online 2015 Oct 28. doi: 10.1093/brain/awv291

PMCID:: PMC4655343

Abstract Article PDF–790K

Select item 44743415.

Clinical and biochemical characterization of four patients with mutations in ECHS1

Sacha Ferdinandusse, Marisa W. Friederich, Alberto Burlina, Jos P. N. Ruiter, Curtis R. Coughlin, II, Megan K. Dishop, Renata C. Gallagher, Jirair K. Bedoyan, Frédéric M. Vaz, Hans R. Waterham, Katherine Gowan, Kathryn Chatfield, Kaitlyn Bloom, Michael J. Bennett, Orly Elpeleg, Johan L. K. Van Hove, Ronald J. A. Wanders

Orphanet J Rare Dis. 2015; 10: 79. Published online 2015 Jun 18. doi: 10.1186/s13023-015-0290-1

PMCID:: PMC4474341

Abstract Article PDF–1.3M

Select item 17853206.

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, René Massimiliano Marsano, Edoardo Malfatti, Erika Fernandez-Vizarra, Claudia Donnini, Paolo Mereghetti, Luca De Gioia, Alberto Burlina, Claudio Castellan, Giacomo P. Comi, Salvatore Savasta, Iliana Ferrero, Massimo Zeviani

Am J Hum Genet. 2007 Jan; 80(1): 44–58. Published online 2006 Nov 15. doi: 10.1086/510559

Correction in:: Am J Hum Genet. 2007 Mar; 80(3): 580.

PMCID:: PMC1785320

Abstract Article PDF–3.8M

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