{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T05:38:14Z","timestamp":1757309894315},"reference-count":43,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2007,6]]},"DOI":"10.1016\/j.ymgme.2007.02.006","type":"journal-article","created":{"date-parts":[[2007,3,20]],"date-time":"2007-03-20T10:51:22Z","timestamp":1174387882000},"page":"148-156","source":"Crossref","is-referenced-by-count":18,"title":["Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)"],"prefix":"10.1016","volume":"91","author":[{"given":"Yelena","family":"Bykhovskaya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emebet","family":"Mengesha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathan","family":"Fischel-Ghodsian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2007.02.006_bib1","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/ajmg.a.20368","article-title":"Mitochondrial myopathy and sideroblastic anemia","volume":"A125","author":"Casas","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2007.02.006_bib2","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1086\/421530","article-title":"Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)","volume":"74","author":"Bykhovskaya","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.02.006_bib3","doi-asserted-by":"crossref","first-page":"19823","DOI":"10.1074\/jbc.M500216200","article-title":"Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation","volume":"280","author":"Patton","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2007.02.006_bib4","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2007.02.006_bib5","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.mito.2004.07.032","article-title":"The many faces of mitochondrial diseases","volume":"4","author":"DiMauro","year":"2004","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ymgme.2007.02.006_bib6","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1093\/hmg\/ddl106","article-title":"The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1","volume":"15","author":"Antonicka","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2007.02.006_bib7","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1261\/rna.100806","article-title":"A previously unidentified activity of yeast and mouse RNA:pseudouridine synthases 1 (Pus1p) on tRNAs","volume":"12","author":"Behm-Ansmant","year":"2006","journal-title":"RNA"},{"key":"10.1016\/j.ymgme.2007.02.006_bib8","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/j.molcel.2004.06.044","article-title":"Regulation of nuclear receptor activity by a pseudouridine synthase through posttranscriptional modification of steroid receptor RNA activator","volume":"15","author":"Zhao","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ymgme.2007.02.006_bib9","doi-asserted-by":"crossref","first-page":"10756","DOI":"10.1073\/pnas.0402560101","article-title":"Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing","volume":"101","author":"Mochizuki","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2007.02.006_bib10","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/990141","article-title":"A telomerase component is defective in the human disease dyskeratosis congenita","volume":"402","author":"Mitchell","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.ymgme.2007.02.006_bib11","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1046\/j.1365-2141.2000.02109.x","article-title":"Dyskeratosis congenita in all its forms","volume":"110","author":"Dokal","year":"2000","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.ymgme.2007.02.006_bib12","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1161\/01.ATV.0000145978.70872.63","article-title":"Differential gene expression of blood-derived cell lines in familial combined hyperlipidemia","volume":"24","author":"Morello","year":"2004","journal-title":"Arterioscler Thromb. Vasc. Biol."},{"key":"10.1016\/j.ymgme.2007.02.006_bib13","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1007\/s10803-006-0134-x","article-title":"Utilization of lymphoblastoid cell lines as a system for the molecular modeling of autism","volume":"36","author":"Baron","year":"2006","journal-title":"J. Autism. Dev. Disord."},{"key":"10.1016\/j.ymgme.2007.02.006_bib14","doi-asserted-by":"crossref","first-page":"2047","DOI":"10.1002\/art.21953","article-title":"Identification of genes modulated in rheumatoid arthritis using complementary DNA microarray analysis of lymphoblastoid B cell lines from disease-discordant monozygotic twins","volume":"54","author":"Haas","year":"2006","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.ymgme.2007.02.006_bib15","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1086\/342974","article-title":"Gene expression phenotype in heterozygous carriers of ataxia telangiectasia","volume":"71","author":"Watts","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.02.006_bib16","first-page":"467","article-title":"Epstein-Barr virus transformation of cryopreserved lymphocytes: prolonged experience with technique","volume":"49","author":"Pressman","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.02.006_bib17","doi-asserted-by":"crossref","first-page":"P3","DOI":"10.1186\/gb-2003-4-5-p3","article-title":"DAVID: database for annotation, visualization, and integrated discovery","volume":"4","author":"Dennis","year":"2003","journal-title":"Genome Biol."},{"issue":"10","key":"10.1016\/j.ymgme.2007.02.006_bib18","doi-asserted-by":"crossref","first-page":"R70","DOI":"10.1186\/gb-2003-4-10-r70","article-title":"Identifying biological themes within lists of genes with EASE","volume":"4","author":"Hosack","year":"2003","journal-title":"Genome Biol."},{"key":"10.1016\/j.ymgme.2007.02.006_bib19","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1101\/gr.2255804","article-title":"Decoding randomly ordered DNA arrays","volume":"14","author":"Gunderson","year":"2004","journal-title":"Genome Res."},{"key":"10.1016\/j.ymgme.2007.02.006_bib20","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1101\/gr.2739104","article-title":"A novel, high-performance random array platform for quantitative gene expression profiling","volume":"14","author":"Kuhn","year":"2004","journal-title":"Genome Res."},{"key":"10.1016\/j.ymgme.2007.02.006_bib21","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1126\/science.1079447","article-title":"Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification","volume":"299","author":"Ruggero","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2007.02.006_bib22","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1126\/science.1123835","article-title":"Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita","volume":"312","author":"Yoon","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2007.02.006_bib23","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1016\/0300-9084(94)90041-8","article-title":"Pseudouridine formation in small nuclear RNAs","volume":"76","author":"Patton","year":"1994","journal-title":"Biochimie"},{"key":"10.1016\/j.ymgme.2007.02.006_bib24","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1093\/nar\/24.12.2411","article-title":"Pseudouridine synthases: four families of enzymes containing a putative uridine-binding motif also conserved in dUTPases and dCTP deaminases","volume":"24","author":"Koonin","year":"1996","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2007.02.006_bib25","series-title":"The Modification and Editing of RNA","first-page":"201","article-title":"Posttranscriptional modifications in the U small nuclear RNAs","author":"Massenet","year":"1998"},{"key":"10.1016\/j.ymgme.2007.02.006_bib26","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1080\/152165400410182","article-title":"Pseudouridine in RNA: what, where, how, and why","volume":"49","author":"Charette","year":"2000","journal-title":"IUBMB Life"},{"key":"10.1016\/j.ymgme.2007.02.006_bib27","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0014-5793(02)02305-0","article-title":"Ribosomal RNA pseudouridines and pseudouridine synthases","volume":"514","author":"Ofengand","year":"2002","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ymgme.2007.02.006_bib28","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1017\/S1355838298980396","article-title":"The yeast tRNA:pseudouridine synthase Pus1p displays a multisite substrate specificity","volume":"4","author":"Motorin","year":"1998","journal-title":"RNA"},{"key":"10.1016\/j.ymgme.2007.02.006_bib29","doi-asserted-by":"crossref","first-page":"2142","DOI":"10.1128\/MCB.19.3.2142","article-title":"Pseudouridine mapping in the Saccharomyces cerevisiae spliceosomal U small nuclear RNAs (snRNAs) reveals that pseudouridine synthase Pus1p exhibits a dual substrate specificity for U2 snRNA and tRNA","volume":"19","author":"Massenet","year":"1999","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ymgme.2007.02.006_bib30","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1261\/rna.5520403","article-title":"The Saccharomyces cerevisiae U2 snRNA:pseudouridine-synthase Pus7p is a novel multisite-multisubstrate RNA:{Psi}-synthase also acting on tRNAs","volume":"9","author":"Behm-Ansmant","year":"2003","journal-title":"RNA"},{"key":"10.1016\/j.ymgme.2007.02.006_bib31","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1042\/0264-6021:3520465","article-title":"Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA","volume":"352","author":"Chen","year":"2000","journal-title":"Biochem J."},{"key":"10.1016\/j.ymgme.2007.02.006_bib32","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1101\/gad.871601","article-title":"A developmental transition in definitive erythropoiesis: erythropoietin expression is sequentially regulated by retinoic acid receptors and HNF4","volume":"15","author":"Makita","year":"2001","journal-title":"Genes Dev."},{"key":"10.1016\/j.ymgme.2007.02.006_bib33","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1182\/blood.V89.2.680","article-title":"Regulation of cellular iron metabolism by erythropoiet","volume":"89","author":"Weiss","year":"1997","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2007.02.006_bib34","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1432-1033.1997.t01-1-00077.x","article-title":"Complex regulation of transferrin receptors during erythropoietin-induced differentiation of J2E erythroid cells\u2014elevated transcription and mRNA stabilisation produce only a modest rise in protein content","volume":"249","author":"Busfield","year":"1997","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.ymgme.2007.02.006_bib35","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1046\/j.1365-2141.2002.03626.x","article-title":"Erythroid 5-aminolevulinate synthase, ferrochelatase and DMT1 expression in erythroid progenitors: differential pathways for erythropoietin and iron-dependent regulation","volume":"118","author":"Zoller","year":"2002","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.ymgme.2007.02.006_bib36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1091\/mbc.4.1.1","article-title":"A double life: cytosolic aconitase as a regulatory RNA binding protein","volume":"4","author":"Klausner","year":"1993","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ymgme.2007.02.006_bib37","doi-asserted-by":"crossref","first-page":"8175","DOI":"10.1073\/pnas.93.16.8175","article-title":"Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress","volume":"93","author":"Hentze","year":"1996","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2007.02.006_bib38","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1182\/blood.V89.1.1","article-title":"Tissue-specific regulation of iron metabolism and heme synthesis: distinct control mechanisms in erythroid cells","volume":"89","author":"Ponka","year":"1997","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2007.02.006_bib39","series-title":"Molecular Cellular Iron Transport","first-page":"207","author":"Hanson","year":"2002"},{"key":"10.1016\/j.ymgme.2007.02.006_bib40","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1016\/S1357-2725(99)00073-4","article-title":"Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis","volume":"31","author":"Sadlon","year":"1999","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.ymgme.2007.02.006_bib41","doi-asserted-by":"crossref","first-page":"3693","DOI":"10.1002\/j.1460-2075.1989.tb08544.x","article-title":"Iron regulation of transferrin receptor mRNA levels requires iron-responsive elements and a rapid turnover determinant in the 3\u2032 untranslated region of the mRNA","volume":"8","author":"Casey","year":"1989","journal-title":"EMBO J."},{"key":"10.1016\/j.ymgme.2007.02.006_bib42","doi-asserted-by":"crossref","first-page":"4771","DOI":"10.1016\/S0021-9258(19)34036-0","article-title":"Regulation of ferritin and transferrin receptor mRNAs","volume":"265","author":"Theil","year":"1990","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2007.02.006_bib43","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1089\/dna.2006.25.418","article-title":"Alternative splicing of the first intron of the steroid receptor RNA activator (SRA) participates in the generation of coding and noncoding RNA isoforms in breast cancer cell lines","volume":"25","author":"Hube","year":"2006","journal-title":"DNA Cell Biol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719207000716?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719207000716?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,8,11]],"date-time":"2021-08-11T16:30:25Z","timestamp":1628699425000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719207000716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6]]},"references-count":43,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["S1096719207000716"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2007.02.006","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2007,6]]}}}