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Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG.

Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14.


Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Kollberg G, Tulinius M, Melberg A, Darin N, Andersen O, Holmgren D, Oldfors A, Holme E.

Brain. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30.


The presence of multiple cellular defects associated with a novel G50E iron-sulfur cluster scaffold protein (ISCU) mutation leads to development of mitochondrial myopathy.

Saha PP, Kumar SK, Srivastava S, Sinha D, Pareek G, D'Silva P.

J Biol Chem. 2014 Apr 11;289(15):10359-77. doi: 10.1074/jbc.M113.526665. Epub 2014 Feb 26.


Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Sanaker PS, Toompuu M, Hogan VE, He L, Tzoulis C, Chrzanowska-Lightowlers ZM, Taylor RW, Bindoff LA.

Biochim Biophys Acta. 2010 Jun;1802(6):539-44. doi: 10.1016/j.bbadis.2010.02.010. Epub 2010 Mar 4.


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

Hall RE, Henriksson KG, Lewis SF, Haller RG, Kennaway NG.

J Clin Invest. 1993 Dec;92(6):2660-6.


Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.

Kollberg G, Melberg A, Holme E, Oldfors A.

Neuromuscul Disord. 2011 Feb;21(2):115-20. doi: 10.1016/j.nmd.2010.11.010. Epub 2010 Dec 31.


Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.

Ye H, Rouault TA.

Biochemistry. 2010 Jun 22;49(24):4945-56. doi: 10.1021/bi1004798. Review.


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.

Olsson A, Lind L, Thornell LE, Holmberg M.

Hum Mol Genet. 2008 Jun 1;17(11):1666-72. doi: 10.1093/hmg/ddn057. Epub 2008 Feb 23.


Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

Shan Y, Napoli E, Cortopassi G.

Hum Mol Genet. 2007 Apr 15;16(8):929-41. Epub 2007 Mar 1.


Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.

Crooks DR, Jeong SY, Tong WH, Ghosh MC, Olivierre H, Haller RG, Rouault TA.

J Biol Chem. 2012 Nov 23;287(48):40119-30. doi: 10.1074/jbc.M112.418889. Epub 2012 Oct 3.


Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly.

Li K, Tong WH, Hughes RM, Rouault TA.

J Biol Chem. 2006 May 5;281(18):12344-51. Epub 2006 Mar 9.


Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly.

Gakh O, Bedekovics T, Duncan SF, Smith DY 4th, Berkholz DS, Isaya G.

J Biol Chem. 2010 Dec 3;285(49):38486-501. doi: 10.1074/jbc.M110.145144. Epub 2010 Oct 2. Erratum in: J Biol Chem. 2011 Mar 11;286(10):8708.


[Mitochondrial aconitase].

Naito E.

Nihon Rinsho. 2002 Apr;60 Suppl 4:133-4. Review. Japanese. No abstract available.


Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy.

Kollberg G, Holme E.

Neuromuscul Disord. 2009 Dec;19(12):833-6. doi: 10.1016/j.nmd.2009.09.011. Epub 2009 Oct 20.


Iron-sulfur cluster biosynthesis. Thermatoga maritima IscU is a structured iron-sulfur cluster assembly protein.

Mansy SS, Wu G, Surerus KK, Cowan JA.

J Biol Chem. 2002 Jun 14;277(24):21397-404. Epub 2002 Apr 4.


Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.

Crooks DR, Ghosh MC, Haller RG, Tong WH, Rouault TA.

Blood. 2010 Jan 28;115(4):860-9. doi: 10.1182/blood-2009-09-243105. Epub 2009 Nov 25.


Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.

Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P.

Nat Genet. 1997 Oct;17(2):215-7.


Structure and dynamics of the iron-sulfur cluster assembly scaffold protein IscU and its interaction with the cochaperone HscB.

Kim JH, Füzéry AK, Tonelli M, Ta DT, Westler WM, Vickery LE, Markley JL.

Biochemistry. 2009 Jul 7;48(26):6062-71. doi: 10.1021/bi9002277.

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