Citations for
1ISCU, MPEI1, PTBP1, RBM39
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.
Nordin A, Larsson E, Holmberg M.
Hum Mutat 33(3):467-70. doi: 10.1002/humu.22002. Epub 2011 Dec 29. 2012
2ISCU, MPEI1
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.
Nordin A, Larsson E, Thornell LE, Holmberg M.
Hum Genet 129(4):371-8. doi: 10.1007/s00439-010-0931-3. Epub 2010 Dec 17. 2011
3ABCB7, ASAT, ASPR2, FRDA, FXN, GLRX5, ISCU, MPEI1
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
Ye H, Rouault TA.
Biochemistry 49(24):4945-56. Review. 2010
4ISCU, MPEI1
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 132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30. 2009
5MPEI1, ISCU
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 82(3):652-60. Epub 2008 Feb 14. 2008
6ISCU, MPEI1
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 17(11):1666-72. Epub 2008 Feb 23. 2008