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Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.
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The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3.
PLoS One. 2016 Oct 26;11(10):e0165453. doi: 10.1371/journal.pone.0165453. eCollection 2016.
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PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis.
Mol Genet Genomic Med. 2018 Nov;6(6):887-897. doi: 10.1002/mgg3.413. Epub 2018 Sep 12.
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Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis.
Gene. 2012 Feb 25;494(2):231-6. doi: 10.1016/j.gene.2011.11.021. Epub 2011 Dec 1.
6
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.
Biochim Biophys Acta. 2010 Jun;1802(6):539-44. doi: 10.1016/j.bbadis.2010.02.010. Epub 2010 Mar 4.
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Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
Brain. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30.
10
Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.
Neuromuscul Disord. 2011 Feb;21(2):115-20. doi: 10.1016/j.nmd.2010.11.010. Epub 2010 Dec 31.

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2
Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases.
BioDrugs. 2024 Mar;38(2):177-203. doi: 10.1007/s40259-024-00644-7. Epub 2024 Jan 22.
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Oligo-Not Only for Silencing: Overlooked Potential for Multidirectional Action in Plants.
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Opportunities and challenges for antisense oligonucleotide therapies.
J Inherit Metab Dis. 2021 Jan;44(1):72-87. doi: 10.1002/jimd.12251. Epub 2020 Jun 3.
6
PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis.
Mol Genet Genomic Med. 2018 Nov;6(6):887-897. doi: 10.1002/mgg3.413. Epub 2018 Sep 12.
7
Iron-sulfur clusters: from metals through mitochondria biogenesis to disease.
J Biol Inorg Chem. 2018 Jun;23(4):509-520. doi: 10.1007/s00775-018-1548-6. Epub 2018 Mar 6.
8
A novel de novo dominant mutation in associated with mitochondrial myopathy.
J Med Genet. 2017 Dec;54(12):815-824. doi: 10.1136/jmedgenet-2017-104822. Epub 2017 Oct 27.

本文引用的文献

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Translation efficiency of mRNAs is increased by antisense oligonucleotides targeting upstream open reading frames.
Nat Biotechnol. 2016 Aug;34(8):875-80. doi: 10.1038/nbt.3589. Epub 2016 Jul 11.
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Impaired Mitochondrial Fat Oxidation Induces FGF21 in Muscle.
Cell Rep. 2016 May 24;15(8):1686-99. doi: 10.1016/j.celrep.2016.04.057. Epub 2016 May 12.
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Accessing the accelerated approval pathway for rare disease therapeutics.
Nat Biotechnol. 2016 Apr;34(4):380-3. doi: 10.1038/nbt.3530.
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Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.
Neurology. 2016 Mar 8;86(10):890-7. doi: 10.1212/WNL.0000000000002445. Epub 2016 Feb 10.
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Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
Cell Metab. 2016 Feb 9;23(2):292-302. doi: 10.1016/j.cmet.2015.12.005. Epub 2015 Dec 31.
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SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.
J Natl Cancer Inst. 2016 Jan;108(1). doi: 10.1093/jnci/djv287.
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RNA mis-splicing in disease.
Nat Rev Genet. 2016 Jan;17(1):19-32. doi: 10.1038/nrg.2015.3. Epub 2015 Nov 23.
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Exon skipping therapy for Duchenne muscular dystrophy.
Adv Drug Deliv Rev. 2015 Jun 29;87:104-7. doi: 10.1016/j.addr.2015.05.008. Epub 2015 May 14.
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Mammalian iron-sulphur proteins: novel insights into biogenesis and function.
Nat Rev Mol Cell Biol. 2015 Jan;16(1):45-55. doi: 10.1038/nrm3909. Epub 2014 Nov 26.

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