PMC Articles for MedGen (Select 482517) - PMC

Select item 99908241.

Biallelic Start Loss Variant, c.1A>G in GCSH is Associated with Variant Nonketotic Hyperglycinemia

Purvi Majethia, Puneeth H Somashekar, Malavika Hebbar, Rajagopal Kadavigere, BK Praveen, Katta Mohan Girisha, Anju Shukla

Clin Genet. Author manuscript; available in PMC 2023 Mar 7.

Published in final edited form as: Clin Genet. 2021 Aug; 100(2): 201–205. Published online 2021 May 3. doi: 10.1111/cge.13970

PMCID:: PMC9990824

Abstract Article PDF–461K

Select item 71867792.

Antioxidant supplementation partially rescues accelerated ovarian follicle loss, but not oocyte quality, of glutathione-deficient mice

Jinhwan Lim, Samiha Ali, Lisa S Liao, Emily S Nguyen, Laura Ortiz, Samantha Reshel, Ulrike Luderer

Biol Reprod. 2020 Apr; 102(5): 1065–1079. Published online 2020 Jan 17. doi: 10.1093/biolre/ioaa009

PMCID:: PMC7186779

Abstract Article PDF–1.4M

Select item 66121163.

A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4

Milad Eidi, Masoud Garshasbi

BMC Neurol. 2019; 19: 153. Published online 2019 Jul 6. doi: 10.1186/s12883-019-1387-2

PMCID:: PMC6612116

Abstract Article PDF–1.2M

Select item 58286274.

Poldip2 is an oxygen-sensitive protein that controls PDH and αKGDH lipoylation and activation to support metabolic adaptation in hypoxia and cancer

Felipe Paredes, Kely Sheldon, Bernard Lassègue, Holly C. Williams, Elizabeth A. Faidley, Gloria A. Benavides, Gloria Torres, Fernanda Sanhueza-Olivares, Samantha M. Yeligar, Kathy K. Griendling, Victor Darley-Usmar, Alejandra San Martin

Proc Natl Acad Sci U S A. 2018 Feb 20; 115(8): 1789–1794. Published online 2018 Feb 6. doi: 10.1073/pnas.1720693115

PMCID:: PMC5828627

Abstract Article PDF–1.1M

Select item 56834075.

A Lipoylated Metabolic Protein Released by Staphylococcus aureus Suppresses Macrophage Activation

James P. Grayczyk, Cameron J. Harvey, Irina Laczkovich, Francis Alonzo, III

Cell Host Microbe. Author manuscript; available in PMC 2018 Nov 8.

Published in final edited form as: Cell Host Microbe. 2017 Nov 8; 22(5): 678–687.e9. Published online 2017 Oct 19. doi: 10.1016/j.chom.2017.09.004

PMCID:: PMC5683407

Abstract Article PDF–1.9M

Select item 55443886.

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 45589917.

Lipoic acid plays a role in scleroderma: insights obtained from scleroderma dermal fibroblasts

Pei-Suen Tsou, Beatrix Balogh, Adam J Pinney, George Zakhem, Ann Lozier, M Asif Amin, William A Stinson, Elena Schiopu, Dinesh Khanna, David A Fox, Alisa E Koch

Arthritis Res Ther. 2014; 16(4): 4225. Published online 2014 Aug 15. doi: 10.1186/s13075-014-0411-6

PMCID:: PMC4558991

Abstract Article PDF–1.6M

Select item 44036348.

E. coli hypoxia-inducible factor ArcA mediates lifespan extension in a lipoic acid synthase mutant by suppressing acetyl-CoA synthetase

Stavros Gonidakis, Steven E. Finkel, Valter D. Longo

Biol Chem. Author manuscript; available in PMC 2015 Apr 20.

Published in final edited form as: Biol Chem. 2010 Oct; 391(10): 1139–1147. doi: 10.1515/BC.2010.120

PMCID:: PMC4403634

Abstract Article PDF–567K

Select item 43581469.

The Streptomyces coelicolor Lipoate-protein Ligase Is a Circularly Permuted Version of the Escherichia coli Enzyme Composed of Discrete Interacting Domains

Xinyun Cao, John E. Cronan

J Biol Chem. 2015 Mar 13; 290(11): 7280–7290. Published online 2015 Jan 27. doi: 10.1074/jbc.M114.626879

PMCID:: PMC4358146

Abstract Article PDF–1.5M

Select item 381126310.

Staphylococcus aureus Fatty Acid Auxotrophs Do Not Proliferate in Mice

Joshua B. Parsons, Matthew W. Frank, Jason W. Rosch, Charles O. Rock

Antimicrob Agents Chemother. 2013 Nov; 57(11): 5729–5732. doi: 10.1128/AAC.01038-13

PMCID:: PMC3811263

Abstract Article PDF–473K

Select item 323437811.

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

Johannes A. Mayr, Franz A. Zimmermann, Christine Fauth, Christa Bergheim, David Meierhofer, Doris Radmayr, Johannes Zschocke, Johannes Koch, Wolfgang Sperl

Am J Hum Genet. 2011 Dec 9; 89(6): 792–797. doi: 10.1016/j.ajhg.2011.11.011

PMCID:: PMC3234378

Abstract Article PDF–491K

Select item 279647312.

Scavenging of the cofactor lipoate is essential for the survival of the malaria parasite Plasmodium falciparum

Marina Allary, Jeff Zhiqiang Lu, Liqun Zhu, Sean T. Prigge

Mol Microbiol. Author manuscript; available in PMC 2009 Dec 21.

Published in final edited form as: Mol Microbiol. 2007 Mar; 63(5): 1331–1344. Published online 2007 Jan 22. doi: 10.1111/j.1365-2958.2007.05592.x

PMCID:: PMC2796473

Abstract Article PDF–1.1M

Select item 17654913.

Lipoic acid metabolism in Escherichia coli: the lplA and lipB genes define redundant pathways for ligation of lipoyl groups to apoprotein.

T W Morris, K E Reed, J E Cronan, Jr

J Bacteriol. 1995 Jan; 177(1): 1–10. doi: 10.1128/jb.177.1.1-10.1995

PMCID:: PMC176549

Summary PDF–323K

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