{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:24:43Z","timestamp":1791080683820,"version":"4.1.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2010,6,1]],"date-time":"2010-06-01T00:00:00Z","timestamp":1275350400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,6]],"date-time":"2013-08-06T00:00:00Z","timestamp":1375747200000},"content-version":"vor","delay-in-days":1162,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100005416","name":"Norwegian Research Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005416","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Helse Vest RHF"},{"name":"Wellcome Trust Programme Grant","award":["074454\/Z\/04\/Z"],"award-info":[{"award-number":["074454\/Z\/04\/Z"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"published-print":{"date-parts":[[2010,6]]},"DOI":"10.1016\/j.bbadis.2010.02.010","type":"journal-article","created":{"date-parts":[[2010,3,8]],"date-time":"2010-03-08T07:48:40Z","timestamp":1268034520000},"page":"539-544","source":"Crossref","is-referenced-by-count":32,"title":["Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy"],"prefix":"10.1016","volume":"1802","author":[{"given":"Petter S.","family":"Sanaker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Toompuu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa E.","family":"Hogan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Langping","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charalampos","family":"Tzoulis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zofia M.A.","family":"Chrzanowska-Lightowlers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence A.","family":"Bindoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2010.02.010_bib1","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1002\/mus.1103","article-title":"Muscle glycogenoses","volume":"24","author":"DiMauro","year":"2001","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.bbadis.2010.02.010_bib2","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1097\/WCO.0b013e32830dd5a6","article-title":"Lipid storage myopathies","volume":"21","author":"Bruno","year":"2008","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.bbadis.2010.02.010_bib3","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1056\/NEJM199909303411404","article-title":"Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA","volume":"341","author":"Andreu","year":"1999","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbadis.2010.02.010_bib4","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.nmd.2008.01.003","article-title":"A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance","volume":"18","author":"Downham","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.bbadis.2010.02.010_bib5","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":"Larsson","year":"1964","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.bbadis.2010.02.010_bib6","first-page":"1283","article-title":"Hereditary myopathy with succinate dehydrogenase deficiency \u2014 a rare life-threatening disease","volume":"89","author":"Linderholm","year":"1992","journal-title":"Lakartidningen"},{"key":"10.1016\/j.bbadis.2010.02.010_bib7","doi-asserted-by":"crossref","first-page":"2170","DOI":"10.1093\/brain\/awp152","article-title":"Clinical manifestation and a new ISCU mutation in iron\u2013sulphur cluster deficiency myopathy","volume":"132","author":"Kollberg","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.bbadis.2010.02.010_bib8","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ajhg.2007.12.012","article-title":"Splice mutation in the iron\u2013sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance","volume":"82","author":"Mochel","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2010.02.010_bib9","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1093\/hmg\/ddn057","article-title":"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","volume":"17","author":"Olsson","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2010.02.010_bib10","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.tig.2008.05.008","article-title":"Iron\u2013sulfur cluster biogenesis and human disease","volume":"24","author":"Rouault","year":"2008","journal-title":"Trends Genet."},{"key":"10.1016\/j.bbadis.2010.02.010_bib11","doi-asserted-by":"crossref","first-page":"5692","DOI":"10.1093\/emboj\/19.21.5692","article-title":"Distinct iron\u2013sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells","volume":"19","author":"Tong","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.bbadis.2010.02.010_bib12","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1093\/brain\/awn289","article-title":"Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue","volume":"132","author":"Hicks","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.bbadis.2010.02.010_bib13","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0091-679X(06)80004-X","article-title":"Biochemical assays of respiratory chain complex activity","volume":"80","author":"Kirby","year":"2007","journal-title":"Methods Cell Biol."},{"key":"10.1016\/j.bbadis.2010.02.010_bib14","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/S1046-2023(02)00038-5","article-title":"Blue Native electrophoresis to study mitochondrial and other protein complexes","volume":"26","author":"Nijtmans","year":"2002","journal-title":"Methods"},{"key":"10.1016\/j.bbadis.2010.02.010_bib15","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1600-0404.2009.01212.x","article-title":"Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations","author":"Tzoulis","year":"2009","journal-title":"Acta Neurol. Scand."},{"key":"10.1016\/j.bbadis.2010.02.010_bib16","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.cmet.2006.02.003","article-title":"Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron\u2013sulfur cluster biogenesis and iron homeostasis","volume":"3","author":"Tong","year":"2006","journal-title":"Cell Metab."},{"key":"10.1016\/j.bbadis.2010.02.010_bib17","doi-asserted-by":"crossref","first-page":"D749","DOI":"10.1093\/nar\/gkj010","article-title":"mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences","volume":"34","author":"Ingman","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbadis.2010.02.010_bib18","doi-asserted-by":"crossref","first-page":"D823","DOI":"10.1093\/nar\/gkl927","article-title":"An enhanced MITOMAP with a global mtDNA mutational phylogeny","volume":"35","author":"Ruiz-Pesini","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbadis.2010.02.010_bib19","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0076-6879(08)04412-1","article-title":"Chapter 12 Controlled expression of iron\u2013sulfur cluster assembly components for respiratory chain complexes in mammalian cells","volume":"456","author":"Stehling","year":"2009","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.bbadis.2010.02.010_bib20","doi-asserted-by":"crossref","first-page":"2660","DOI":"10.1172\/JCI116882","article-title":"Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron\u2013sulfur proteins","volume":"92","author":"Hall","year":"1993","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbadis.2010.02.010_bib21","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/ng0897-352","article-title":"Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue","volume":"16","author":"Wilson","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbadis.2010.02.010_bib22","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1126\/science.1106391","article-title":"Aconitase couples metabolic regulation to mitochondrial DNA maintenance","volume":"307","author":"Chen","year":"2005","journal-title":"Science"},{"key":"10.1016\/j.bbadis.2010.02.010_bib23","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1023\/B:NERE.0000014826.00881.c3","article-title":"Role of oxidative damage in Friedreich's ataxia","volume":"29","author":"Bradley","year":"2004","journal-title":"Neurochem. Res."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443910000529?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443910000529?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,6]],"date-time":"2020-05-06T19:03:20Z","timestamp":1588791800000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443910000529"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["S0925443910000529"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2010.02.010","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2010,6]]}}}