PMC Links for Nucleotide (Select 363807267) - PMC

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Items: 3

Select item 32133981.

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Aleix Navarro-Sastre, Frederic Tort, Oliver Stehling, Marta A. Uzarska, José Antonio Arranz, Mireia del Toro, M. Teresa Labayru, Joseba Landa, Aida Font, Judit Garcia-Villoria, Begoña Merinero, Magdalena Ugarte, Luis Gonzalez Gutierrez-Solana, Jaume Campistol, Angels Garcia-Cazorla, Julian Vaquerizo, Encarnació Riudor, Paz Briones, Orly Elpeleg, Antonia Ribes, Roland Lill

Am J Hum Genet. 2011 Nov 11; 89(5): 656–667. doi: 10.1016/j.ajhg.2011.10.005

PMCID:: PMC3213398

Abstract Article PDF–1.1M

Select item 31888352.

Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

Jessie M. Cameron, Alexandre Janer, Valeriy Levandovskiy, Nevena MacKay, Tracey A. Rouault, Wing-Hang Tong, Isla Ogilvie, Eric A. Shoubridge, Brian H. Robinson

Am J Hum Genet. 2011 Oct 7; 89(4): 486–495. doi: 10.1016/j.ajhg.2011.08.011

PMCID:: PMC3188835

Abstract Article PDF–1.1M

Select item 39052853.

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Yohan Soreze, Audrey Boutron, Florence Habarou, Christine Barnerias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bole-Feysot, Patrick Nitschke, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay

Orphanet J Rare Dis. 2013; 8: 192. Published online 2013 Dec 17. doi: 10.1186/1750-1172-8-192