{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T02:52:39Z","timestamp":1761706359046,"version":"3.37.3"},"reference-count":35,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2016,10,26]],"date-time":"2016-10-26T00:00:00Z","timestamp":1477440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006310","name":"Swedish Medical Research Council","doi-asserted-by":"crossref","award":["K2012-68X-15022-09-3"],"award-info":[{"award-number":["K2012-68X-15022-09-3"]}],"id":[{"id":"10.13039\/501100006310","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Medical Faculty at Umea University"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0165453","type":"journal-article","created":{"date-parts":[[2016,10,26]],"date-time":"2016-10-26T14:00:12Z","timestamp":1477490412000},"page":"e0165453","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":7,"title":["The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3"],"prefix":"10.1371","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6632-5770","authenticated-orcid":true,"given":"Denise F. R.","family":"Rawcliffe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lennart","family":"\u00d6sterman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Lindsten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Holmberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2016,10,26]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1136\/jnnp.27.5.361","article-title":"Hereditary metabolic myopathy with paroxysmal myoglobinuria due to abnormal glycolysis","volume":"27","author":"LE Larsson","year":"1964","journal-title":"J Neurol Neurosurg Psychiat"},{"issue":"5","key":"ref2","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1136\/jmg.32.5.344","article-title":"Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study","volume":"32","author":"MH Ulf Drugge","year":"1995","journal-title":"J Med Genet"},{"issue":"4","key":"ref3","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1172\/JCI115422","article-title":"Deficiency of skeletal muscle succinate dehydrogenase and aconitase","volume":"88","author":"RG Haller","year":"1991","journal-title":"J Clin Invest"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"2660","DOI":"10.1172\/JCI116882","article-title":"Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency","volume":"92","author":"RE Hall","year":"1993","journal-title":"J Clin Invest"},{"issue":"3","key":"ref5","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ajhg.2007.12.012","article-title":"Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance","volume":"82","author":"F Mochel","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"6","key":"ref6","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.bbadis.2010.02.010","article-title":"Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy","volume":"1802","author":"PS Sanaker","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1007\/s00439-010-0931-3","article-title":"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","volume":"129","author":"A Nordin","year":"2011","journal-title":"Hum Genet"},{"issue":"11","key":"ref8","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1093\/hmg\/ddn057","article-title":"Myopathy with lactic acidosis is linked to chromosome 12q23.3\u201324.11 and cause by an intron mutation in the ISCU gene resulting in a splicing defect","volume":"17","author":"A Olsson","year":"2008","journal-title":"Hum Mol Gen"},{"issue":"8","key":"ref9","doi-asserted-by":"crossref","first-page":"2170","DOI":"10.1093\/brain\/awp152","article-title":"Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy","volume":"132","author":"G Kollberg","year":"2009","journal-title":"Brain"},{"issue":"27","key":"ref10","doi-asserted-by":"crossref","first-page":"7856","DOI":"10.1021\/bi000931n","article-title":"IscU as a Scaffold for Iron\u2212Sulfur Cluster Biosynthesis: Sequential Assembly of [2Fe-2S] and [4Fe-4S] Clusters in IscU\u2020","volume":"39","author":"JN Agar","year":"2000","journal-title":"Biochemistry"},{"issue":"3","key":"ref11","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1002\/humu.22002","article-title":"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","volume":"33","author":"A Nordin","year":"2012","journal-title":"Hum Mutat"},{"issue":"2","key":"ref12","doi-asserted-by":"crossref","first-page":"e16807","DOI":"10.1371\/journal.pone.0016807","article-title":"Microgenomic Analysis in Skeletal Muscle: Expression Signatures of Individual Fast and Slow Myofibers","volume":"6","author":"F Chemello","year":"2011","journal-title":"PLoS ONE"},{"issue":"3","key":"ref13","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1111\/j.1365-2052.2011.02249.x","article-title":"Differential expression of genes characterizing myofibre phenotype","volume":"43","author":"LS Nierobisz","year":"2012","journal-title":"Anim Genet"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"3674","DOI":"10.1002\/elps.200900292","article-title":"Comparison of methods for quantification of subtle splice variants","volume":"30","author":"S Schindler","year":"2009","journal-title":"Electrophoresis"},{"issue":"4","key":"ref15","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2\u2212\u0394\u0394CT Method","volume":"25","author":"KJ Livak","year":"2001","journal-title":"Methods"},{"issue":"6","key":"ref16","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1038\/nprot.2008.73","article-title":"Analyzing real-time PCR data by the comparative CT method","volume":"3","author":"TD Schmittgen","year":"2008","journal-title":"Nat Protocols"},{"issue":"2","key":"ref17","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1093\/jmcb\/mjr030","article-title":"Exon-centric regulation of pyruvate kinase M alternative splicing via mutually exclusive exons","volume":"4","author":"Z Wang","year":"2012","journal-title":"J Mol Cell Biol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1152\/physrev.2000.80.3.1215","article-title":"Calcium ion in skeletal muscle: Its crucial role for muscle function, plasticity and disease","volume":"80","author":"MW Bertchtold","year":"2000","journal-title":"Physial Rev"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1038\/nature00904","article-title":"Transcriptional co-activator PGC-1\u03b1 driver the formation of slow-twitch muscle fibres","volume":"418","author":"J Lin","year":"2002","journal-title":"Nature"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1146\/annurev.biochem.75.103004.142622","article-title":"Signaling pathways in skeletal muscle remodeling","volume":"75","author":"R Bassel-Duby","year":"2006","journal-title":"Annu Rev Biochem"},{"key":"ref21","article-title":"Fast-Twitch Glycolytic Skeletal Muscle Is Predisposed to Age-Induced Impairments in Mitochondrial Function","author":"RA Jacobs","year":"2013","journal-title":"J Gerontol A-Biol"},{"issue":"10","key":"ref22","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1101\/lm.640307","article-title":"Sex-dependent up-regulation of two splicing factors, Psf and Srp20, during hippocampal memory formation","volume":"14","author":"A Antunes-Martins","year":"2007","journal-title":"Learn Mem"},{"issue":"10","key":"ref23","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1186\/gb-2009-10-10-242","article-title":"The SR protein family","volume":"10","author":"PJ Shepard","year":"2009","journal-title":"Genome biology"},{"issue":"18","key":"ref24","doi-asserted-by":"crossref","first-page":"3246","DOI":"10.1111\/j.1742-4658.2011.08274.x","article-title":"Shuttling SR proteins: more than splicing factors","volume":"278","author":"L Twyffels","year":"2011","journal-title":"FEBS J"},{"issue":"16","key":"ref25","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1016\/S0960-9822(99)80394-7","article-title":"Blastocyst formation is blocked in mouse embryos lacking the splicing factor SRp20","volume":"9","author":"H Jumaa","year":"1999","journal-title":"Curr Biol"},{"issue":"22","key":"ref26","doi-asserted-by":"crossref","first-page":"2792","DOI":"10.1038\/onc.2012.288","article-title":"Downregulation of splicing factor SRSF3 induces p53beta, an alternatively spliced isoform of p53 that promotes cellular senescence","volume":"32","author":"Y Tang","year":"2013","journal-title":"Oncogene"},{"issue":"1","key":"ref27","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.bbagrm.2013.11.006","article-title":"Exon 9 skipping of apoptotic caspase-2 pre-mRNA is promoted by SRSF3 through interaction with exon 8","volume":"1839","author":"HN Jang","year":"2014","journal-title":"Biochim Biophys Acta"},{"issue":"12","key":"ref28","doi-asserted-by":"crossref","first-page":"e115205","DOI":"10.1371\/journal.pone.0115205","article-title":"Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy Cells","volume":"9","author":"CD Wee","year":"2014","journal-title":"PLoS ONE"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"R17","DOI":"10.1186\/gb-2012-13-3-r17","article-title":"The RNA-binding landscapes of two SR proteins reveal unique functions and binding to diverse RNA classes","volume":"13","author":"M-L \u00c4nk\u00f6","year":"2012","journal-title":"Genome Biol"},{"issue":"16","key":"ref30","doi-asserted-by":"crossref","first-page":"5077","DOI":"10.1093\/emboj\/16.16.5077","article-title":"The splicing factor SRp20 modifies splicing of its own mRNA and ASF\/SF2 antagonizes this regulation","volume":"16","author":"H Jumaa","year":"1997","journal-title":"EMBO J"},{"issue":"3","key":"ref31","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1017\/S1355838299981967","article-title":"The splicing factors 9G8 and SRp20 transactivate splicing through different and specific enhancers","volume":"5","author":"Y Cavaloc","year":"1999","journal-title":"RNA"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"54","DOI":"10.3389\/fphys.2012.00054","article-title":"The Splicing Factor SRSF1 as a Marker for Endothelial Senescence","volume":"3","author":"FJ Blanco","year":"2012","journal-title":"Front Physiol"},{"issue":"6","key":"ref33","doi-asserted-by":"crossref","first-page":"3116","DOI":"10.1128\/MCB.17.6.3116","article-title":"Regulated expression and RNA processing of transcripts from the Srp20 splicing factor gene during the cell cycle","volume":"17","author":"H Jumaa","year":"1997","journal-title":"Mol Cell Biol"},{"issue":"6","key":"ref34","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1093\/nar\/19.6.1273","article-title":"A differentially expressed murine RNA encoding a protein with similarities to two types of nucleic acid binding motifs","volume":"19","author":"M Ayane","year":"1991","journal-title":"Nucleic Acids Research"},{"issue":"4","key":"ref35","first-page":"430","article-title":"Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors","volume":"4","author":"A Hanamura","year":"1998","journal-title":"RNA"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0165453","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,14]],"date-time":"2019-09-14T22:19:09Z","timestamp":1568499549000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0165453"}},"subtitle":[],"editor":[{"given":"Atsushi","family":"Asakura","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2016,10,26]]},"references-count":35,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2016,10,26]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0165453","relation":{},"ISSN":["1932-6203"],"issn-type":[{"type":"electronic","value":"1932-6203"}],"subject":[],"published":{"date-parts":[[2016,10,26]]}}}