| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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