{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T17:30:34Z","timestamp":1783704634995,"version":"3.55.0"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,8,9]],"date-time":"2012-08-09T00:00:00Z","timestamp":1344470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Cellular Biochemistry"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maple Syrup Urine Disease is a rare metabolic disorder caused by reduced\/absent activity of the branched chain \u03b1\u2010Ketoacid dehydrogenase enzyme complex. Mutations in <jats:italic>BCKDHA<\/jats:italic>, <jats:italic>BCKDHB<\/jats:italic>, and <jats:italic>DBT<\/jats:italic>, that encode important subunits of the enzyme complex namely E1\u03b1, E1\u03b2, and E2, are the primary cause for the disease. We have performed the first molecular genetic analysis of MSUD from India on nine patients exhibiting classical MSUD symptoms. <jats:italic>BCKDHA<\/jats:italic> and <jats:italic>BCKDHB<\/jats:italic> mutations were identified in four and five patients, respectively including seven novel mutations namely the <jats:italic>BCKDHA<\/jats:italic> c.1249delC, c.1312T&gt;C, and c.1561T&gt;A and the <jats:italic>BCKDHB<\/jats:italic> c.401T&gt;A, c.548G&gt;A, c.964A&gt;G, and c.1065delT. The <jats:italic>BCKDHB<\/jats:italic> c.970C&gt;T (p.R324X) mutation was shown to trigger nonsense mediated decay\u2010based degradation of the transcript. Seven of the total 11 mutations resulted in perturbations in the E1\u03b1 or E1\u03b2 C\u2010termini either through altered termination or through an amino acid change; these are expected to result in disruption of E1 enzyme complex assembly. Our study has therefore revealed that <jats:italic>BCKDHA<\/jats:italic> and <jats:italic>BCKDHB<\/jats:italic> mutations might be primarily responsible for MSUD in the Indian population. J. Cell. Biochem. 113: 3122\u20133132, 2012. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/jcb.24189","type":"journal-article","created":{"date-parts":[[2012,5,16]],"date-time":"2012-05-16T17:12:30Z","timestamp":1337188350000},"page":"3122-3132","source":"Crossref","is-referenced-by-count":15,"title":["Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C\u2010termini of E1\u03b1 and E1\u03b2"],"prefix":"10.1002","volume":"113","author":[{"given":"Murali D.","family":"Bashyam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay K.","family":"Chaudhary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjari","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.A.","family":"Nagarajaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Radha Rama","family":"Devi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Bashyam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Chandrakanth","family":"Reddy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,8,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21642"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1586\/erm.09.18"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0169-9"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.01.016"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10707.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.04.017"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq507"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/136.1.243S"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.2741\/A299"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-440X(02)00283-X"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/323677"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9077-7"},{"key":"e_1_2_6_14_1","first-page":"429","article-title":"Occurrence of a Tyr393\u2013\u2013Asn (Y393N) mutation in the E1 alpha gene of the branched\u2010chain alpha\u2010keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population","volume":"49","author":"Fisher CR","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0579-x"},{"key":"e_1_2_6_16_1","first-page":"97","article-title":"Molecular genetics of maple syrup urine disease in the Turkish population","volume":"51","author":"Gorzelany K","year":"2009","journal-title":"Turk J Pediatr"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9187"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M403611200"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(97)00046-X"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/316950"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00144-6"},{"key":"e_1_2_6_23_1","first-page":"167","article-title":"Three Korean patients with maple syrup urine disease: Four novel mutations in the BCKDHA gene","volume":"41","author":"Park HD","year":"2011","journal-title":"Ann Clin Lab Sci"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.02.008"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9428"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.34.4.454"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M105862200"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114033"}],"container-title":["Journal of Cellular Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcb.24189","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcb.24189","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T14:30:01Z","timestamp":1697293801000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcb.24189"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,9]]},"references-count":27,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1002\/jcb.24189"],"URL":"https:\/\/doi.org\/10.1002\/jcb.24189","archive":["Portico"],"relation":{},"ISSN":["0730-2312","1097-4644"],"issn-type":[{"value":"0730-2312","type":"print"},{"value":"1097-4644","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,9]]}}}