{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T14:34:53Z","timestamp":1787927693955,"version":"build-2784847793"},"reference-count":19,"publisher":"Public Library of Science (PLoS)","issue":"7","license":[{"start":{"date-parts":[[2016,7,29]],"date-time":"2016-07-29T00:00:00Z","timestamp":1469750400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R21HD059008"],"award-info":[{"award-number":["R21HD059008"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005984","name":"Dr. Miriam and Sheldon G. Adelson Medical Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005984","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0160447","type":"journal-article","created":{"date-parts":[[2016,7,29]],"date-time":"2016-07-29T20:45:47Z","timestamp":1469825147000},"page":"e0160447","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":22,"title":["A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems"],"prefix":"10.1371","volume":"11","author":[{"given":"J. Samuel","family":"Zigler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin A.","family":"Hodgkinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Klise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8125-2653","authenticated-orcid":true,"given":"Olof","family":"Sundin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl W.","family":"Broman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4788-0362","authenticated-orcid":false,"given":"Fielding","family":"Hejtmancik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bonnie","family":"Patek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Sergeev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey","family":"Hose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6666-6548","authenticated-orcid":true,"given":"Cory","family":"Brayton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiao","family":"Xaiodong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Vasquez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Maragakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susumu","family":"Mori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Goldman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1215-3373","authenticated-orcid":false,"given":"Ahmet","family":"Hoke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debasish","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2016,7,29]]},"reference":[{"issue":"1","key":"ref1","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1042\/BJ20061506","article-title":"The case for regulating indispensable amino acid metabolism: the branched-chain alpha-keto acid dehydrogenase kinase-knockout mouse","volume":"400","author":"SM Hutson","year":"2006","journal-title":"Biochem J"},{"issue":"1","key":"ref2","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1042\/BJ20060869","article-title":"Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice","volume":"400","author":"MA Joshi","year":"2006","journal-title":"Biochem J"},{"issue":"6170","key":"ref3","first-page":"506","article-title":"Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy","volume":"343","author":"G Novarino","year":"2014","journal-title":"Science"},{"issue":"3","key":"ref4","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1111\/j.1432-1033.1984.tb08597.x","article-title":"Regulation of bovine kidney branched-chain 2-oxoacid dehydrogenase complex by reversible phosphorylation","volume":"145","author":"KG Cook","year":"1984","journal-title":"Eur J Biochem"},{"issue":"2","key":"ref5","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.bbrc.2003.11.007","article-title":"Mechanisms responsible for regulation of branched-chain amino acid catabolism","volume":"313","author":"RA Harris","year":"2004","journal-title":"Biochem Biophys Res Commun"},{"issue":"6 Suppl","key":"ref6","doi-asserted-by":"crossref","first-page":"1527S","DOI":"10.1093\/jn\/135.6.1527S","article-title":"Overview of the molecular and biochemical basis of branched-chain amino acid catabolism","volume":"135","author":"RA Harris","year":"2005","journal-title":"J Nutr"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/0065-2571(90)90021-S","article-title":"Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease","volume":"30","author":"RA Harris","year":"1990","journal-title":"Adv Enzyme Regul"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.preteyeres.2014.11.002","article-title":"\u03b2A3\/A1-crystallin: more than a lens protein","volume":"44C","author":"JS Zigler Jr.","year":"2015","journal-title":"Prog Retin Eye Res"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.mcn.2007.08.016","article-title":"\u03b2A3\/A1-Crystallin in astroglial cells regulates retinal vascular remodeling during development","volume":"37","author":"D Sinha","year":"2008","journal-title":"Mol Cell Neurosci"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.exer.2004.09.014","article-title":"A rat spontaneous mutation affects programmed cell death during the early development of the eye","volume":"80","author":"D Sinha","year":"2005","journal-title":"Experimental Eye Research"},{"issue":"16","key":"ref11","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Y Choi","year":"2015","journal-title":"Bioinformatics"},{"issue":"19","key":"ref12","doi-asserted-by":"crossref","first-page":"13127","DOI":"10.1016\/S0021-9258(18)42179-5","article-title":"Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases","volume":"267","author":"KM Popov","year":"1992","journal-title":"J Biol Chem"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/humu.22513","article-title":"Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients","volume":"35","author":"A Garc\u00eda-Cazorla","year":"2014","journal-title":"Hum. Mutat."},{"issue":"7321","key":"ref14","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/nature09582","article-title":"Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes","volume":"468","author":"HT Chao","year":"2010","journal-title":"Nature"},{"issue":"7402","key":"ref15","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/nature11015","article-title":"Autistic-like behaviours and hyperactivity in mice lacking ProSAP1\/Shank2","volume":"486","author":"MJ Schmeisser","year":"2012","journal-title":"Nature"},{"issue":"1 Pt 2","key":"ref16","first-page":"R18","article-title":"Indispensable amino acid deficiency and increased seizure susceptibility in rats","volume":"271","author":"DW Gietzen","year":"1996","journal-title":"Am J Physiol"},{"issue":"6 Suppl","key":"ref17","doi-asserted-by":"crossref","first-page":"1531S","DOI":"10.1093\/jn\/135.6.1531S","article-title":"Brain amino acid requirements and toxicity: the example of leucine","volume":"135","author":"M Yudkoff","year":"2005","journal-title":"J Nutr"},{"issue":"1","key":"ref18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1354\/vp.38-1-1","article-title":"Evaluating mutant mice: anatomic pathology","volume":"38","author":"C Brayton","year":"2001","journal-title":"Vet. Pathol"},{"issue":"2","key":"ref19","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.expneurol.2007.03.011","article-title":"Ciliary neurotrophic factor is not required for terminal sprouting and compensatory reinnervation of neuromuscular synapses","volume":"205","author":"MC Wright","year":"2007","journal-title":"Exp. Neurol"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0160447","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T10:10:07Z","timestamp":1656929407000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0160447"}},"subtitle":[],"editor":[{"given":"Antal","family":"N\u00f3gr\u00e1di","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2016,7,29]]},"references-count":19,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2016,7,29]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0160447","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,29]]}}}