{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:12:43Z","timestamp":1790745163654,"version":"4.1.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,5,19]],"date-time":"2016-05-19T00:00:00Z","timestamp":1463616000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2016,7]]},"DOI":"10.1016\/j.ajhg.2016.05.021","type":"journal-article","created":{"date-parts":[[2016,7,2]],"date-time":"2016-07-02T14:47:46Z","timestamp":1467470866000},"page":"217-227","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":66,"title":["Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype"],"prefix":"10.1016","volume":"99","author":[{"given":"Charlotte\u00a0L.","family":"Alston","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison\u00a0G.","family":"Compton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke\u00a0E.","family":"Formosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Strecker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Ol\u00e1hov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias\u00a0B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e9l","family":"Smet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrien","family":"Stouffs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Diakumis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Cassiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Romain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John\u00a0W.","family":"Yarham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Langping","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boel","family":"De\u00a0Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud\u00a0V.","family":"Vanlander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Seneca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9\u00a0G.","family":"Feichtinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafal","family":"P\u0142oski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dariusz","family":"Rokicki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Pronicka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald\u00a0G.","family":"Haller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan\u00a0L.K.","family":"Van\u00a0Hove","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes\u00a0A.","family":"Mayr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudy","family":"Van\u00a0Coster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilka","family":"Wittig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael\u00a0T.","family":"Ryan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David\u00a0R.","family":"Thorburn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert\u00a0W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2016.05.021_bib1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/s10545-006-0362-4","article-title":"Mitochondrial complex I: structure, function and pathology","volume":"29","author":"Janssen","year":"2006","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2016.05.021_bib2","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.bbabio.2004.09.006","article-title":"Clinical and molecular findings in children with complex I deficiency","volume":"1659","author":"Bugiani","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.05.021_bib3","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1136\/jmedgenet-2012-100846","article-title":"Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing","volume":"49","author":"Haack","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2016.05.021_bib4","doi-asserted-by":"crossref","first-page":"118ra10","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. Transl. Med."},{"key":"10.1016\/j.ajhg.2016.05.021_bib5","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1136\/jmedgenet-2012-101159","article-title":"Complex I deficiency: clinical features, biochemistry and molecular genetics","volume":"49","author":"Fassone","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2016.05.021_bib6","doi-asserted-by":"crossref","first-page":"3948","DOI":"10.1093\/hmg\/ddv133","article-title":"Mutation in NDUFA13\/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability","volume":"24","author":"Angebault","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2016.05.021_bib7","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/j.ajhg.2015.02.002","article-title":"Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome","volume":"96","author":"van Rahden","year":"2015","journal-title":"Am. J. Hum. Genet."},{"issue":"D1","key":"10.1016\/j.ajhg.2016.05.021_bib8","doi-asserted-by":"crossref","first-page":"D1251","DOI":"10.1093\/nar\/gkv1003","article-title":"MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins","volume":"44","author":"Calvo","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2016.05.021_bib9","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.cell.2008.06.016","article-title":"A mitochondrial protein compendium elucidates complex I disease biology","volume":"134","author":"Pagliarini","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2016.05.021_bib10","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.cmet.2012.08.009","article-title":"Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex","volume":"16","author":"Heide","year":"2012","journal-title":"Cell Metab."},{"key":"10.1016\/j.ajhg.2016.05.021_bib11","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1128\/MCB.01551-13","article-title":"TIMMDC1\/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex","volume":"34","author":"Guarani","year":"2014","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2016.05.021_bib12","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.ajhg.2016.05.021_bib13","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1002\/humu.22728","article-title":"Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)","volume":"36","author":"Vanlander","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2016.05.021_bib14","doi-asserted-by":"crossref","first-page":"e2","DOI":"10.1161\/CIRCRESAHA.114.302662","article-title":"Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?","volume":"114","author":"Ploski","year":"2014","journal-title":"Circ. Res."},{"key":"10.1016\/j.ajhg.2016.05.021_bib15","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1016\/j.ajhg.2012.10.019","article-title":"Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA","volume":"91","author":"Haack","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2016.05.021_bib16","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/nmeth.3213","article-title":"The I-TASSER Suite: protein structure and function prediction","volume":"12","author":"Yang","year":"2015","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2016.05.021_bib17","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1038\/nprot.2015.053","article-title":"The Phyre2 web portal for protein modeling, prediction and analysis","volume":"10","author":"Kelley","year":"2015","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2016.05.021_bib18","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/978-1-4939-0366-5_2","article-title":"RaptorX server: a resource for template-based protein structure modeling","volume":"1137","author":"K\u00e4llberg","year":"2014","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2016.05.021_bib19","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1136\/jmg.28.7.458","article-title":"Characterisation of a glycine to\u00a0valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with\u00a0Ehlers-Danlos syndrome type IV","volume":"28","author":"Richards","year":"1991","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2016.05.021_bib20","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1016\/S0006-3495(99)77009-8","article-title":"Helix packing in polytopic membrane proteins: role of glycine in transmembrane helix association","volume":"77","author":"Javadpour","year":"1999","journal-title":"Biophys. J."},{"key":"10.1016\/j.ajhg.2016.05.021_bib21","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2016.05.021_bib22","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2016.05.021_bib23","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2016.05.021_bib24","doi-asserted-by":"crossref","first-page":"e1004234","DOI":"10.1371\/journal.pgen.1004234","article-title":"A general approach for haplotype phasing across the full spectrum of relatedness","volume":"10","author":"O\u2019Connell","year":"2014","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2016.05.021_bib25","doi-asserted-by":"crossref","first-page":"2952","DOI":"10.1093\/hmg\/ddv058","article-title":"Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I","volume":"24","author":"Formosa","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2016.05.021_bib26","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/brain\/awv291","article-title":"LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population","volume":"138","author":"Ol\u00e1hov\u00e1","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2016.05.021_bib27","doi-asserted-by":"crossref","first-page":"5404","DOI":"10.1093\/hmg\/ddv265","article-title":"COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2","volume":"24","author":"Stroud","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2016.05.021_bib28","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1038\/ng.659","article-title":"High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency","volume":"42","author":"Calvo","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.05.021_bib29","doi-asserted-by":"crossref","first-page":"18934","DOI":"10.1073\/pnas.1319247110","article-title":"Assembly factors for the membrane arm of human complex I","volume":"110","author":"Andrews","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.05.021_bib30","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1038\/nprot.2006.62","article-title":"Blue native PAGE","volume":"1","author":"Wittig","year":"2006","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2016.05.021_bib31","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/nature10098","article-title":"Global quantification of mammalian gene expression control","volume":"473","author":"Schwanh\u00e4usser","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2016.05.021_bib32","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1038\/nbt.1511","article-title":"MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification","volume":"26","author":"Cox","year":"2008","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2016.05.021_bib33","doi-asserted-by":"crossref","first-page":"7045","DOI":"10.1074\/jbc.M115.710772","article-title":"The endoplasmic reticulum chaperone calnexin is a NADPH oxidase Nox4 interacting protein","volume":"291","author":"Prior","year":"2016","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.05.021_bib34","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/j.bbabio.2011.08.010","article-title":"Understanding mitochondrial complex I assembly in health and disease","volume":"1817","author":"Mimaki","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.05.021_bib35","doi-asserted-by":"crossref","first-page":"4228","DOI":"10.1128\/MCB.00074-07","article-title":"Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex\u00a0I","volume":"27","author":"Lazarou","year":"2007","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2016.05.021_bib36","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1055\/s-0030-1255062","article-title":"Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect","volume":"41","author":"Herzer","year":"2010","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ajhg.2016.05.021_bib37","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/iub.335","article-title":"Assembly factors of human mitochondrial complex I and their defects in disease","volume":"62","author":"Mckenzie","year":"2010","journal-title":"IUBMB Life"},{"key":"10.1016\/j.ajhg.2016.05.021_bib38","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.1126\/science.aac7516","article-title":"Mutations causing mitochondrial disease: What is new and what challenges remain?","volume":"349","author":"Lightowlers","year":"2015","journal-title":"Science"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716301562?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716301562?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T00:58:35Z","timestamp":1655859515000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929716301562"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["S0002929716301562"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.05.021","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2016,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.05.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.05.022","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Author(s).","name":"copyright","label":"Copyright"}]}}