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Liu, D. ISCU Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4224 (accessed on 10 September 2026).
Liu D. ISCU Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4224. Accessed September 10, 2026.
Liu, Dean. "ISCU Gene" Encyclopedia, https://encyclopedia.pub/entry/4224 (accessed September 10, 2026).
Liu, D. (2020, December 23). ISCU Gene. In Encyclopedia. https://encyclopedia.pub/entry/4224
Liu, Dean. "ISCU Gene." Encyclopedia. Web. 23 December, 2020.
ISCU Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/iscu

Iron-sulfur cluster assembly enzyme

genes

References

  1. Kollberg G, Tulinius M, Melberg A, Darin N, Andersen O, Holmgren D, Oldfors A,Holme E. Clinical manifestation and a new ISCU mutation in iron-sulphur clusterdeficiency myopathy. Brain. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152.
  2. Li K, Tong WH, Hughes RM, Rouault TA. Roles of the mammalian cytosoliccysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur clusterassembly. J Biol Chem. 2006 May 5;281(18):12344-51.
  3. Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM,Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in theiron-sulfur cluster scaffold protein ISCU causes myopathy with exerciseintolerance. Am J Hum Genet. 2008 Mar;82(3):652-60. doi:10.1016/j.ajhg.2007.12.012.
  4. Olsson A, Lind L, Thornell LE, Holmberg M. Myopathy with lactic acidosis islinked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCUgene resulting in a splicing defect. Hum Mol Genet. 2008 Jun 1;17(11):1666-72.doi: 10.1093/hmg/ddn057.
  5. Rouault TA, Tong WH. Iron-sulfur cluster biogenesis and human disease. Trends Genet. 2008 Aug;24(8):398-407. doi: 10.1016/j.tig.2008.05.008.Review.
  6. Tong WH, Rouault TA. Functions of mitochondrial ISCU and cytosolic ISCU inmammalian iron-sulfur cluster biogenesis and iron homeostasis. Cell Metab. 2006Mar;3(3):199-210.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Dean Liu
View Times: 687
Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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