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Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins.

R E Hall, … , R G Haller, N G Kennaway

R E Hall, … , R G Haller, N G Kennaway

Published December 1, 1993
Citation Information: J Clin Invest. 1993;92(6):2660-2666. https://doi.org/10.1172/JCI116882.

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Citations to this article (74)

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FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. Montealegre S, Lebigot E, Debruge H, Romero N, Héron B, Gaignard P, Legendre A, Imbard A, Gobin S, Lacène E, Nusbaum P, Hubas A, Desguerre I, Servais A, Laforêt P, van Endert P, Authier FJ, Gitiaux C, de Lonlay P	Neurology Genetics	2022
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PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis DF Rawcliffe, L Österman, A Nordin, M Holmberg	Molecular Genetics & Genomic Medicine	2018
Exposure of aconitase to smoking-related oxidants results in iron loss and increased iron response protein-1 activity: potential mechanisms for iron accumulation in human arterial cells J Talib, MJ Davies	JBIC Journal of Biological Inorganic Chemistry	2016
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The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3 DF Rawcliffe, L Österman, H Lindsten, M Holmberg, A Asakura	PloS one	2016
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Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis PS Sanaker, M Toompuu, G McClorey, LA Bindoff	Gene	2011
The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1 A Nordin, E Larsson, M Holmberg	Human Mutation	2011
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