| 1 | ISCU, PTBP1
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| PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis.
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| Rawcliffe DFR, Österman L, Nordin A, Holmberg M.
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| Mol Genet Genomic Med 6(6):887-897. doi: 10.1002/mgg3.413. Epub 2018 Sep 12.
2018
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| 2 | FXN, ISCU, NFS1
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| Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.
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| Bridwell-Rabb J, Fox NG, Tsai CL, Winn AM, Barondeau DP.
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| Biochemistry 53(30):4904-13. doi: 10.1021/bi500532e. Epub 2014 Jul 18.
2014
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| 3 | HSCB, HSPA9, ISCU, LYRM4, NFS1
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| Human mitochondrial chaperone (mtHSP70) and cysteine desulfurase (NFS1) bind preferentially to the disordered conformation, whereas co-chaperone (HSC20) binds to the structured conformation of the iron-sulfur cluster scaffold protein (ISCU).
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| Cai K, Frederick RO, Kim JH, Reinen NM, Tonelli M, Markley JL.
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| J Biol Chem 288(40):28755-70. doi: 10.1074/jbc.M113.482042. Epub 2013 Aug 12. 2013
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| 4 | ISCU, NFS1
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| Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly.
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| Pandey A, Gordon DM, Pain J, Stemmler TL, Dancis A, Pain D.
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| J Biol Chem 288(52):36773-86. doi: 10.1074/jbc.M113.525857. Epub 2013 Nov 11.
2013
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| 5 | ISCU, MPEI1, PTBP1, RBM39
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| 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.
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| Nordin A, Larsson E, Holmberg M.
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| Hum Mutat 33(3):467-70. doi: 10.1002/humu.22002. Epub 2011 Dec 29. 2012
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| 6 | FXN, HSCB, HSPA9, ISCU
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| HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis.
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| Shan Y, Cortopassi G.
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| Hum Mol Genet 21(7):1457-69. doi: 10.1093/hmg/ddr582. Epub 2011 Dec 13.
2012
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| 7 | ISCU, NFS1, PIM1
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| Cysteine desulfurase Nfs1 and Pim1 protease control levels of Isu, the Fe-S cluster biogenesis scaffold.
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| Song JY, Marszalek J, Craig EA.
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| Proc Natl Acad Sci U S A 109(26):10370-5. doi: 10.1073/pnas.1206945109. Epub 2012 Jun 11.
2012
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| 8 | BOLA3, ISCU, MMDFS, MMDS2, NFU1
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| Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes.
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| Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH.
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| Am J Hum Genet 89(4):486-95. Epub 2011 Sep 22.
2011
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| 9 | ISCU, MPEI1
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| Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.
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| Nordin A, Larsson E, Thornell LE, Holmberg M.
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| Hum Genet 129(4):371-8. doi: 10.1007/s00439-010-0931-3. Epub 2010 Dec 17.
2011
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| 10 | ABCB7, ASAT, ASPR2, FRDA, FXN, GLRX5, ISCU, MPEI1
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| Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
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| Ye H, Rouault TA.
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| Biochemistry 49(24):4945-56. Review. 2010
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| 11 | GLRX5, IBA57, ISCU
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| Erythropoiesis and iron sulfur cluster biogenesis.
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| Ye H, Rouault TA.
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| Adv Hematol 2010. pii: 329394. Epub 2010 Aug 31.PMID: 20862391 2010
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| 12 | FXN, ISCU, LYRM4, NFS1
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| Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
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| Tsai CL, Barondeau DP.
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| Biochemistry 49(43):9132-9.
2010
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| 13 | COX10, ISCU, MIR210
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| Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression.
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| Chen Z, Li Y, Zhang H, Huang P, Luthra R.
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| Oncogene 29(30):4362-8. doi: 10.1038/onc.2010.193. Epub 2010 May 24. 2010
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| 14 | ISCU, MPEI1
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| Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
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| Kollberg G, Tulinius M, Melberg A, Darin N, Andersen O, Holmgren D, Oldfors A, Holme E.
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| Brain 132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30.
2009
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| 15 | ISCU, MIR210
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| MicroRNA-210 controls mitochondrial metabolism during hypoxia by repressing the iron-sulfur cluster assembly proteins ISCU1/2.
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| Chan SY, Zhang YY, Hemann C, Mahoney CE, Zweier JL, Loscalzo J.
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| Cell Metab 10(4):273-84. doi: 10.1016/j.cmet.2009.08.015.
2009
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| 16 | MPEI1, ISCU
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| Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
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| Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG.
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| Am J Hum Genet 82(3):652-60. Epub 2008 Feb 14. 2008
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| 17 | ISCU, MPEI1
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| Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.
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| Olsson A, Lind L, Thornell LE, Holmberg M.
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| Hum Mol Genet 17(11):1666-72. Epub 2008 Feb 23. 2008
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| 18 | HSCB, ISCU
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| Solution structure of the iron-sulfur cluster cochaperone HscB and its binding surface for the iron-sulfur assembly scaffold protein IscU.
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| Füzéry AK, Tonelli M, Ta DT, Cornilescu G, Vickery LE, Markley JL.
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| Biochemistry 47(36):9394-404. Epub 2008 Aug 15.
2008
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| 19 | NFS1, ISCU
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| Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly.
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| Li K, Tong WH, Hughes RM, Rouault TA.
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| J Biol Chem 281(18):12344-51. Epub 2006 Mar 9. 2006
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| 20 | ISCU
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| Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis.
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| Tong WH, Rouault TA.
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| Cell Metab 3(3):199-210. 2006
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| 21 | ISCU
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| Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.
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| Acquaviva F, De Biase I, Nezi L, Ruggiero G, Tatangelo F, Pisano C, Monticelli A, Garbi C, Acquaviva AM, Cocozza S.
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| J Cell Sci 118(Pt 17):3917-24. Epub 2005 Aug 9. 2005
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| 22 | HSCB, ISCU
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| Contributions of the LPPVK motif of the iron-sulfur template protein IscU to interactions with the Hsc66-Hsc20 chaperone system.
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| Hoff KG, Cupp-Vickery JR, Vickery LE.
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| J Biol Chem 278(39):37582-9. Epub 2003 Jul 17.
2003
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| 23 | ISCU
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| A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution.
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| Hwang DM, Dempsey A, Tan KT, Liew CC.
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| J Mol Evol 43(5):536-40. 1996
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