{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,3]],"date-time":"2024-08-03T09:20:35Z","timestamp":1722676835660},"reference-count":27,"publisher":"Frontiers Media SA","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2015.00102","type":"journal-article","created":{"date-parts":[[2015,3,23]],"date-time":"2015-03-23T05:43:44Z","timestamp":1427089424000},"source":"Crossref","is-referenced-by-count":1,"title":["Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations"],"prefix":"10.3389","volume":"6","author":[{"given":"Sara","family":"Brito","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyle","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaume","family":"Campistol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime","family":"Colomer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A.","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Langping","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Fern\u00c3\u00a1ndez-Marmiesse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes","family":"Palacios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Jou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Jim\u00c3\u00a9nez-Mallebrera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel","family":"Montero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christin","family":"Tischner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina","family":"Wenz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"McFarland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2015,3,23]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1038\/290457a0","article-title":"Sequence and organization of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"key":"B2","doi-asserted-by":"publisher","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":"B3","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1007\/8904_2011_107","article-title":"Infantile progressive Hepatoencephalomyopathy with combined OXPHOS deficiency due to mutations in the mitochondrial translation elongation factor gene GFM1","volume":"5","author":"Balasubramaniam","year":"2012","journal-title":"JIMD Rep"},{"key":"B4","doi-asserted-by":"publisher","first-page":"118ra110","DOI":"10.1126\/scitranslmed.3003310","article-title":"Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing","volume":"4","author":"Calvo","year":"2012","journal-title":"Sci. Trans. Med"},{"key":"B5","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0076-6879(96)64020-8","article-title":"In vivo labeling and analysis of human mitochondrial translation products","volume":"264","author":"Chomyn","year":"1996","journal-title":"Methods Enzymol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"2080","DOI":"10.1056\/NEJMoa041878","article-title":"Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency","volume":"351","author":"Coenen","year":"2004","journal-title":"N. Engl. J. Med"},{"key":"B7","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1007\/s12033-008-9100-5","article-title":"MitoP2: an integrative tool for the analysis of the mitochondrial proteome","volume":"40","author":"Elstner","year":"2008","journal-title":"Mol. Biotechnol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/j.mito.2011.09.007","article-title":"Toward genotype phenotype correlations in GFM1 mutations","volume":"12","author":"Galmiche","year":"2012","journal-title":"Mitochondrion"},{"key":"B9","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1006\/geno.2001.6536","article-title":"Cloning and Characterization of Human and Mouse Mitochondrial Elongation Factor G, GFM and Gfm, and Mapping of GFM to Human Chromosome 3q25.1\u00e2\u20ac\u201cq26.2","volume":"74","author":"Gao","year":"2001","journal-title":"Genomics"},{"key":"B10","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/j.tig.2005.04.003","article-title":"Nuclear genes and mitochondrial translation: a new class of genetic disease","volume":"21","author":"Jacobs","year":"2005","journal-title":"Trends Genet"},{"key":"B11","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1093\/brain\/awq320","article-title":"Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency","volume":"134","author":"Kemp","year":"2011","journal-title":"Brain"},{"key":"B12","doi-asserted-by":"publisher","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":"B13","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B14","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B15","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1016\/j.gene.2013.10.017","article-title":"L-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders","volume":"533","author":"Ribas","year":"2014","journal-title":"Gene"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1198","DOI":"10.1016\/j.bbabio.2011.06.010","article-title":"Human diseases with impaired mitochondrial protein synthesis","volume":"1807","author":"Rotig","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"B17","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1002\/mus.20917","article-title":"Human mitochondrial transfer RNAs: role of pathogenic mutation in disease","volume":"37","author":"Scaglia","year":"2008","journal-title":"Muscle Nerve"},{"key":"B18","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1002\/ana.21217","article-title":"Prevalence of mitochondrial DNA disease in adults","volume":"63","author":"Schaefer","year":"2008","journal-title":"Ann. Neurol"},{"key":"B19","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/ejhg.2010.208","article-title":"Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle","volume":"19","author":"Smits","year":"2011","journal-title":"Eur. J. Hum. Genet"},{"key":"B20","doi-asserted-by":"publisher","first-page":"737385","DOI":"10.1155\/2010\/737385","article-title":"Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies","volume":"2010","author":"Smits","year":"2010","journal-title":"J. Biomed. Biotechnol"},{"key":"B21","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1016\/j.biochi.2013.08.024","article-title":"The effect of small molecules on nuclear-encoded translation diseases","volume":"100","author":"Soiferman","year":"2014","journal-title":"Biochimie"},{"key":"B22","doi-asserted-by":"publisher","first-page":"2029","DOI":"10.1111\/bph.12461","article-title":"First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics","volume":"171","author":"Szeto","year":"2014","journal-title":"Br. J. Pharmacol"},{"key":"B23","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1001\/jama.2014.7184","article-title":"Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies","volume":"312","author":"Taylor","year":"2014","journal-title":"JAMA"},{"key":"B24","doi-asserted-by":"publisher","first-page":"e16799","DOI":"10.1371\/journal.pone.0016799","article-title":"The Drosophila mitochondrial translation elongation factor G1 contains a nuclear localization signal and inhibits growth and DPP signaling","volume":"6","author":"Trivigno","year":"2011","journal-title":"PLoS ONE"},{"key":"B25","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1086\/510559","article-title":"Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu","volume":"80","author":"Valente","year":"2007","journal-title":"Am. J. Hum. Genet"},{"key":"B26","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"B27","doi-asserted-by":"publisher","first-page":"41","DOI":"10.3109\/07853890.2011.598547","article-title":"Mechanisms of mitochondrial diseases","volume":"44","author":"Ylikallio","year":"2012","journal-title":"Ann. Med"}],"container-title":["Frontiers in Genetics"],"original-title":[],"deposited":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T03:49:35Z","timestamp":1498189775000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.frontiersin.org\/Genetic_Disorders\/10.3389\/fgene.2015.00102\/abstract"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,23]]},"references-count":27,"URL":"https:\/\/doi.org\/10.3389\/fgene.2015.00102","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,23]]}}}