{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T16:28:07Z","timestamp":1792081687796,"version":"4.4.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T00:00:00Z","timestamp":1314835200000},"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":687,"URL":"http:\/\/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":[[2011,9]]},"DOI":"10.1016\/j.ajhg.2011.07.014","type":"journal-article","created":{"date-parts":[[2011,8,19]],"date-time":"2011-08-19T03:20:19Z","timestamp":1313724019000},"page":"415-423","source":"Crossref","is-referenced-by-count":248,"title":["Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy"],"prefix":"10.1016","volume":"89","author":[{"given":"Genevi\u00e8ve","family":"Bernard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria\u00a0Lisa","family":"Putorti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"T\u00e9treault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asako","family":"Takanohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Carosso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Cl\u00e9ment","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boespflug-Tanguy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Delague","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joelle","family":"Abou\u00a0Ghoch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Jalkh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imen","family":"Dorboz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastien","family":"Fribourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Teichmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Megarbane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Schiffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2011.07.014_bib1","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1097\/00019052-200404000-00017","article-title":"The latest on leukodystrophies","volume":"17","author":"Schiffmann","year":"2004","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.ajhg.2011.07.014_bib2","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1212\/01.wnl.0000343049.00540.c8","article-title":"Invited article: An MRI-based approach to the diagnosis of white matter disorders","volume":"72","author":"Schiffmann","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2011.07.014_bib3","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s10048-010-0251-8","article-title":"Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31","volume":"11","author":"Bernard","year":"2010","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ajhg.2011.07.014_bib4","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/ajmg.a.10019","article-title":"Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity?","volume":"118A","author":"Atrouni","year":"2003","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2011.07.014_bib5","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s10048-010-0256-3","article-title":"A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22","volume":"12","author":"Chouery","year":"2011","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ajhg.2011.07.014_bib6","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1055\/s-2007-985137","article-title":"Ataxia, delayed dentition and hypomyelination: A novel leukoencephalopathy","volume":"38","author":"Wolf","year":"2007","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ajhg.2011.07.014_bib7","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.braindev.2009.07.008","article-title":"Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient","volume":"32","author":"Bekiesinska-Figatowska","year":"2010","journal-title":"Brain Dev."},{"key":"10.1016\/j.ajhg.2011.07.014_bib8","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1212\/01.wnl.0000247666.28904.35","article-title":"Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia","volume":"67","author":"Timmons","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2011.07.014_bib9","first-page":"204","article-title":"Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: A new leukodystrophy","volume":"47","author":"V\u00e1zquez-L\u00f3pez","year":"2008","journal-title":"Rev. Neurol."},{"key":"10.1016\/j.ajhg.2011.07.014_bib10","article-title":"Refinement of the locus responsible for Tremor-Ataxia with Central Hypomyelination (TACH) leukodystrophy to chromosome 10q22.3-23.1","author":"Tetreault","year":"2011","journal-title":"Can. J. Neurol. Sci."},{"key":"10.1016\/j.ajhg.2011.07.014_bib11","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.molcel.2006.05.013","article-title":"Structural biology of RNA polymerase III: Subcomplex C17\/25 X-ray structure and 11 subunit enzyme model","volume":"23","author":"Jasiak","year":"2006","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2011.07.014_bib12","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/j.molcel.2007.02.016","article-title":"Insights into transcription initiation and termination from the electron microscopy structure of yeast RNA polymerase III","volume":"25","author":"Fern\u00e1ndez-Tornero","year":"2007","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2011.07.014_bib13","first-page":"1087","article-title":"Effect of mutations in a zinc-binding domain of yeast RNA polymerase C (III) on enzyme function and subunit association","volume":"12","author":"Werner","year":"1992","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2011.07.014_bib14","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1101\/gr.7.10.1006","article-title":"The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase III","volume":"7","author":"Sepehri","year":"1997","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2011.07.014_bib15","doi-asserted-by":"crossref","first-page":"2971","DOI":"10.1093\/brain\/awq257","article-title":"Magnetic resonance imaging pattern recognition in hypomyelinating disorders","volume":"133","author":"Steenweg","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2011.07.014_bib16","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng.724","article-title":"Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome","volume":"43","author":"Dauwerse","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.07.014_bib17","doi-asserted-by":"crossref","first-page":"3687","DOI":"10.4161\/cc.9.18.13203","article-title":"Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription","volume":"9","author":"Dumay-Odelot","year":"2010","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ajhg.2011.07.014_bib18","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1146\/annurev.biophys.37.032807.130008","article-title":"Structure of eukaryotic RNA polymerases","volume":"37","author":"Cramer","year":"2008","journal-title":"Annu. Rev. Biophys."},{"key":"10.1016\/j.ajhg.2011.07.014_bib19","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/j.tig.2007.09.001","article-title":"The expanding RNA polymerase III transcriptome","volume":"23","author":"Dieci","year":"2007","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2011.07.014_bib20","doi-asserted-by":"crossref","first-page":"4176","DOI":"10.1073\/pnas.0914980107","article-title":"Two isoforms of human RNA polymerase III with specific functions in cell growth and transformation","volume":"107","author":"Haurie","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2011.07.014_bib21","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/nrg3001","article-title":"Transcription by RNA polymerase III: More complex than we thought","volume":"12","author":"White","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2011.07.014_bib22","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/j.sbi.2009.10.005","article-title":"Structure-function analysis of RNA polymerases I and III","volume":"19","author":"Werner","year":"2009","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.ajhg.2011.07.014_bib23","doi-asserted-by":"crossref","first-page":"e221","DOI":"10.1371\/journal.pgen.0020221","article-title":"Tissue-specific differences in human transfer RNA expression","volume":"2","author":"Dittmar","year":"2006","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2011.07.014_bib24","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1016\/j.ajhg.2010.10.016","article-title":"Pelizaeus-Merzbacher-like disease caused by AIMP1\/p43 homozygous mutation","volume":"87","author":"Feinstein","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.07.014_bib25","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/ng2013","article-title":"Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","volume":"39","author":"Scheper","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.07.014_bib26","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/j.ajhg.2010.12.015","article-title":"Neurodegenerative disorder related to AIMP1\/p43 mutation is not\u00a0a PMLD","volume":"88","author":"Boespflug-Tanguy","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.07.014_bib27","doi-asserted-by":"crossref","first-page":"7131","DOI":"10.1074\/jbc.M413038200","article-title":"Structures of complete RNA polymerase II and its subcomplex, Rpb4\/7","volume":"280","author":"Armache","year":"2005","journal-title":"J. Biol. Chem."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711003089?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711003089?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,10,17]],"date-time":"2021-10-17T22:35:07Z","timestamp":1634510107000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929711003089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["S0002929711003089"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.07.014","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2011,9]]}}}