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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2008 | 2 |
2009 | 1 |
2010 | 2 |
2011 | 2 |
2012 | 1 |
2024 | 0 |
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Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14.
Am J Hum Genet. 2008.
PMID: 18304497
Free PMC article.
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.
Olsson A, et al.
Hum Mol Genet. 2008 Jun 1;17(11):1666-72. doi: 10.1093/hmg/ddn057. Epub 2008 Feb 23.
Hum Mol Genet. 2008.
PMID: 18296749
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Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy.
Kollberg G, Holme E.
Kollberg G, et al.
Neuromuscul Disord. 2009 Dec;19(12):833-6. doi: 10.1016/j.nmd.2009.09.011. Epub 2009 Oct 20.
Neuromuscul Disord. 2009.
PMID: 19846308
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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.
Sanaker PS, et al.
Biochim Biophys Acta. 2010 Jun;1802(6):539-44. doi: 10.1016/j.bbadis.2010.02.010. Epub 2010 Mar 4.
Biochim Biophys Acta. 2010.
PMID: 20206689
Free article.
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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.
Nordin A, Larsson E, Thornell LE, Holmberg M.
Nordin A, et al.
Hum Genet. 2011 Apr;129(4):371-8. doi: 10.1007/s00439-010-0931-3. Epub 2010 Dec 17.
Hum Genet. 2011.
PMID: 21165651
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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.
Nordin A, Larsson E, Holmberg M.
Nordin A, et al.
Hum Mutat. 2012 Mar;33(3):467-70. doi: 10.1002/humu.22002. Epub 2011 Dec 29.
Hum Mutat. 2012.
PMID: 22125086
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