{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:19:03Z","timestamp":1791296343017,"version":"4.1.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2004,6,1]],"date-time":"2004-06-01T00:00:00Z","timestamp":1086048000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3335,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2004,6]]},"DOI":"10.1086\/421530","type":"journal-article","created":{"date-parts":[[2004,5,10]],"date-time":"2004-05-10T16:38:56Z","timestamp":1084207136000},"page":"1303-1308","source":"Crossref","is-referenced-by-count":293,"title":["Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)"],"prefix":"10.1016","volume":"74","author":[{"given":"Yelena","family":"Bykhovskaya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Casas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emebet","family":"Mengesha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Inbal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Fischel-Ghodsian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/421530_bib13","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1093\/nar\/28.9.1941","article-title":"Identification of the Saccharomyces cerevisiae RNA:pseudouridine synthase responsible for formation of psi(2819) in 21S mitochondrial ribosomal RNA","volume":"28","author":"Ansmant","year":"2000","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/421530_bib14","doi-asserted-by":"crossref","first-page":"4493","DOI":"10.1093\/nar\/25.22.4493","article-title":"The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs","volume":"25","author":"Becker","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/421530_bib15","series-title":"Bioinformatics for geneticists","article-title":"Amino acid properties and consequences of subsitutions","author":"Betts","year":"2003"},{"key":"10.1086\/421530_bib16","unstructured":"Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N. Gene responsible for mitochondrial myopathy and sideroblastic anemia (MLASA) maps to chromosome 12q24.33. Am J Med Genet (in press)"},{"key":"10.1086\/421530_bib17","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/ajmg.a.20368","article-title":"Mitochondrial myopathy and sideroblastic anemia","volume":"125A","author":"Casas","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1086\/421530_bib18","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1017\/S1355838299981591","article-title":"Cloning and characterization of a mammalian pseudouridine synthase","volume":"5","author":"Chen","year":"1999","journal-title":"RNA"},{"key":"10.1086\/421530_bib19","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1042\/bj3520465","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":"10.1086\/421530_bib20","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0378-1119(01)00817-4","article-title":"Role of editing in plant mitochondrial transfer RNAs","volume":"286","author":"Fey","year":"2002","journal-title":"Gene"},{"key":"10.1086\/421530_bib21","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/71219","article-title":"The structural basis for tRNA recognition and pseudouridine formation by pseudouridine synthase 1","volume":"7","author":"Foster","year":"2000","journal-title":"Nat Struct Biol"},{"key":"10.1086\/421530_bib22","doi-asserted-by":"crossref","first-page":"46333","DOI":"10.1074\/jbc.M107141200","article-title":"Pus1p-dependent tRNA pseudouridinylation becomes essential when tRNA biogenesis is compromised in yeast","volume":"276","author":"Grosshans","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1086\/421530_bib23","doi-asserted-by":"crossref","first-page":"14270","DOI":"10.1073\/pnas.96.25.14270","article-title":"The mechanism of pseudouridine synthase I as deduced from its interaction with 5-fluorouracil-tRNA","volume":"96","author":"Gu","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/421530_bib24","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng0598-32","article-title":"X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions","volume":"19","author":"Heiss","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/421530_bib25","doi-asserted-by":"crossref","first-page":"4604","DOI":"10.1093\/nar\/28.23.4604","article-title":"Cloning and characterization of the Schizosaccharomyces pombe tRNA:pseudouridine synthase Pus1p","volume":"28","author":"Hellmuth","year":"2000","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/421530_bib26","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1021\/bi971874+","article-title":"A conserved aspartate of tRNA pseudouridine synthase is essential for activity and a probable nucleophilic catalyst","volume":"37","author":"Huang","year":"1998","journal-title":"Biochemistry"},{"key":"10.1086\/421530_bib27","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/ajmg.1320550325","article-title":"Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome","volume":"55","author":"Inbal","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1086\/421530_bib28","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1046\/j.1365-2141.1999.01690.x","article-title":"Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (HoyeraalHreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1","volume":"107","author":"Knight","year":"1999","journal-title":"Br J Haematol"},{"key":"10.1086\/421530_bib29","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1086\/302446","article-title":"X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene","volume":"65","author":"Knight","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/421530_bib30","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s004390100494","article-title":"Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis","volume":"108","author":"Knight","year":"2001","journal-title":"Hum Genet"},{"key":"10.1086\/421530_bib31","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":"10.1086\/421530_bib32","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1038\/ng0598-6","article-title":"Dyskeratosis and ribosomal rebellion","volume":"19","author":"Luzzatto","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/421530_bib33","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":"10.1086\/421530_bib34","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1006\/geno.1997.4995","article-title":"Comparison of DNA sequences with protein sequences","volume":"46","author":"Pearson","year":"1997","journal-title":"Genomics"},{"key":"10.1086\/421530_bib35","doi-asserted-by":"crossref","first-page":"22225","DOI":"10.1074\/jbc.274.32.22225","article-title":"Critical aspartic acid residues in pseudouridine synthases","volume":"274","author":"Ramamurthy","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/421530_bib36","doi-asserted-by":"crossref","first-page":"2230","DOI":"10.1093\/nar\/26.9.2230","article-title":"Using neural networks for prediction of the subcellular location of proteins","volume":"26","author":"Reinhardt","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/421530_bib37","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":"10.1086\/421530_bib38","first-page":"1213","article-title":"A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)","volume":"51","author":"Silvestri","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1086\/421530_bib39","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1093\/nar\/26.1.148","article-title":"Compilation of tRNA sequences and sequences of tRNA genes","volume":"26","author":"Sprinzl","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/421530_bib40","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1067\/mpd.2000.104295","article-title":"Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome","volume":"136","author":"Yaghmai","year":"2000","journal-title":"J Pediatr"},{"key":"10.1086\/421530_bib41","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1159\/000472390","article-title":"A MERRF\/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene","volume":"1","author":"Zeviani","year":"1993","journal-title":"Eur J Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707628584?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707628584?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,9]],"date-time":"2019-02-09T10:53:50Z","timestamp":1549709630000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707628584"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["S0002929707628584"],"URL":"https:\/\/doi.org\/10.1086\/421530","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2004,6]]}}}