{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T13:44:37Z","timestamp":1776865477698,"version":"3.51.2"},"reference-count":47,"publisher":"Oxford University Press (OUP)","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mol. Genet."],"DOI":"10.1093\/hmg\/ddw338","type":"journal-article","created":{"date-parts":[[2016,10,3]],"date-time":"2016-10-03T19:05:37Z","timestamp":1475521537000},"page":"ddw338","source":"Crossref","is-referenced-by-count":3,"title":["Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines"],"prefix":"10.1093","author":[{"given":"Gregory P.","family":"Holmes-Hampton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel R.","family":"Crooks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald G.","family":"Haller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuling","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan M.","family":"Freier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brett P.","family":"Monia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracey A.","family":"Rouault","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2016,10,7]]},"reference":[{"key":"2016122218001166000_ddw338v2.1","doi-asserted-by":"publisher","DOI":"10.1007\/s007750050002"},{"key":"2016122218001166000_ddw338v2.2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1219723"},{"key":"2016122218001166000_ddw338v2.3","doi-asserted-by":"publisher","DOI":"10.1126\/science.1219664"},{"key":"2016122218001166000_ddw338v2.4","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1096\/fasebj.7.15.8262329","article-title":"Aconitase, a two-faced protein: enzyme and iron regulatory factor","volume":"7","author":"Beinert","year":"1993","journal-title":"Faseb J."},{"key":"2016122218001166000_ddw338v2.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2006.02.003"},{"key":"2016122218001166000_ddw338v2.6","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/nrm3909","article-title":"Mammalian iron-sulphur proteins: novel insights into biogenesis and function","volume":"16","author":"Rouault","year":"2015","journal-title":"Nat. Rev. Mol. Cell Biol"},{"key":"2016122218001166000_ddw338v2.7","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.27.5.361"},{"key":"2016122218001166000_ddw338v2.8","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115422"},{"key":"2016122218001166000_ddw338v2.9","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp152"},{"key":"2016122218001166000_ddw338v2.10","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116882"},{"key":"2016122218001166000_ddw338v2.11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.1990.tb00191.x"},{"key":"2016122218001166000_ddw338v2.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.012"},{"key":"2016122218001166000_ddw338v2.13","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn057"},{"key":"2016122218001166000_ddw338v2.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2010.02.010"},{"key":"2016122218001166000_ddw338v2.15","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0931-3"},{"key":"2016122218001166000_ddw338v2.16","doi-asserted-by":"publisher","DOI":"10.1076\/ocii.7.3.189.4007"},{"key":"2016122218001166000_ddw338v2.17","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.606442"},{"key":"2016122218001166000_ddw338v2.18","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.pharmtox.010909.105654"},{"key":"2016122218001166000_ddw338v2.19","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002445"},{"key":"2016122218001166000_ddw338v2.20","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.09.011"},{"key":"2016122218001166000_ddw338v2.21","unstructured":"Corey D.R. Abrams J.M. (2001) Morpholino antisense oligonucleotides: tools for investigating vertebrate development. Genome Biol., 2, REVIEWS1015."},{"key":"2016122218001166000_ddw338v2.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.addr.2015.05.008"},{"key":"2016122218001166000_ddw338v2.23","doi-asserted-by":"crossref","first-page":"40119","DOI":"10.1074\/jbc.M112.418889","article-title":"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","volume":"287","author":"Crooks","year":"2012","journal-title":"J. Biol. Inorg. Chem"},{"key":"2016122218001166000_ddw338v2.24","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22002"},{"key":"2016122218001166000_ddw338v2.25","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nrd3160","article-title":"Emergence of orphan drugs in the United States: a quantitative assessment of the first 25 years","volume":"9","author":"Braun","year":"2010","journal-title":"Nat. Rev. Drug Discov"},{"key":"2016122218001166000_ddw338v2.26","first-page":"1","article-title":"The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases","volume":"6","author":"Miyamoto","year":"2011","journal-title":"Otphanet. J. Rare Dis"},{"key":"2016122218001166000_ddw338v2.27","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/nbt.3530","article-title":"Accessing the accelerated approval pathway for rare disease therapeutics","volume":"34","author":"Kakkis","year":"2016","journal-title":"Nat. Biotechnol"},{"key":"2016122218001166000_ddw338v2.28","doi-asserted-by":"crossref","first-page":"1686","DOI":"10.1016\/j.celrep.2016.04.057","article-title":"Impaired Mitochondrial Fat Oxidation Induces FGF21 in Muscle","volume":"15","author":"Vandanmagsar","year":"2016","journal-title":"Cell Rep"},{"key":"2016122218001166000_ddw338v2.29","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt393"},{"key":"2016122218001166000_ddw338v2.30","doi-asserted-by":"crossref","unstructured":"Saxena N. Maio N. Crooks D.R. Ricketts C.J. Yang Y. Wei M.H. Fan T.W. Lane A.N. Sourbier C. Singh A. , . (2016) SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery. J. Natl. Cancer Inst., 108,","DOI":"10.1093\/jnci\/djv287"},{"key":"2016122218001166000_ddw338v2.31","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2015.12.005"},{"key":"2016122218001166000_ddw338v2.32","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2005.06.017"},{"key":"2016122218001166000_ddw338v2.33","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0107434"},{"key":"2016122218001166000_ddw338v2.34","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/nbt.3589","article-title":"Translation efficiency of mRNAs is increased by antisense oligonucleotides targeting upstream open reading frames","volume":"34","author":"Liang","year":"2016","journal-title":"Nat. Biotechnol"},{"key":"2016122218001166000_ddw338v2.35","doi-asserted-by":"publisher","DOI":"10.1517\/14712598.2014.896335"},{"key":"2016122218001166000_ddw338v2.36","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1453"},{"key":"2016122218001166000_ddw338v2.37","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2746"},{"key":"2016122218001166000_ddw338v2.38","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1038\/nrg.2015.3","article-title":"RNA mis-splicing in disease","volume":"17","author":"Scotti","year":"2016","journal-title":"Nat. Rev. Genet"},{"key":"2016122218001166000_ddw338v2.39","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10214"},{"key":"2016122218001166000_ddw338v2.40","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005753117205"},{"key":"2016122218001166000_ddw338v2.41","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0925-4439(01)00065-5","article-title":"An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease","volume":"1537","author":"Noack","year":"2001","journal-title":"Biochim. Biophys. Acta, Mol. Basis Dis"},{"key":"2016122218001166000_ddw338v2.42","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.8.3840"},{"key":"2016122218001166000_ddw338v2.43","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.3.815"},{"key":"2016122218001166000_ddw338v2.44","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl498"},{"key":"2016122218001166000_ddw338v2.45","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9135-1"},{"key":"2016122218001166000_ddw338v2.46","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.21.5692"},{"key":"2016122218001166000_ddw338v2.47","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/25\/23\/5178\/10404382\/ddw338.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,14]],"date-time":"2019-09-14T06:45:39Z","timestamp":1568443539000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddw338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,7]]},"references-count":47,"alternative-id":["10.1093\/hmg\/ddw338"],"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddw338","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,7]]}}}