{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:39:04Z","timestamp":1790937544940,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,12,16]],"date-time":"2005-12-16T00:00:00Z","timestamp":1134691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Electrophoresis"],"published-print":{"date-parts":[[2006,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A \u201cmitochondrial hypothesis\u201d of late onset Alzheimer's disease\u2005(AD) has been proposed. Biochemical studies indicate that there is a significant decrease in cytochrome oxidase\u2005(CO) activity as well as perturbed CO\u2005I and CO\u2005III mRNA levels in platelets and brain tissue from Alzheimer's patients. Using the electrophoretic mutation detection technique SSCP and DNA sequencing, we have identified 20\u2009point mutations in the mitochondrial\u2010encoded CO subunits (CO\u2005I, II, and III) in AD and age\u2010matched control brain samples. Eight of the mutations are new variants of the mitochondrial genome. The efficiency of SSCP in detecting mutations in the CO subunits was estimated to be 80% when compared to dideoxy sequencing. One of the mutations (at position\u20059861) results in a phenylalanine\u2192leucine substitution at a highly conserved residue in CO\u2005III. CO activity was reduced by an average of 35% in all AD brains compared to age\u2010matched control samples, which agrees with previous reports. CO activity in one of the AD brain samples carrying the 9861\u2009mutation decreased by 80%\u2005relative to control brain samples, suggesting that the phenotypic expression of this mutation may result in reduced CO activity and compromised mitochondrial function.<\/jats:p>","DOI":"10.1002\/elps.200500420","type":"journal-article","created":{"date-parts":[[2005,12,16]],"date-time":"2005-12-16T07:16:35Z","timestamp":1134717395000},"page":"398-408","source":"Crossref","is-referenced-by-count":48,"title":["Mutations in mitochondrial\u2010encoded cytochrome\u2005<b><i>c<\/i><\/b> oxidase subunits\u2005I, II, and III genes detected in Alzheimer's disease using single\u2010strand conformation polymorphism"],"prefix":"10.1002","volume":"27","author":[{"given":"Natasha\u2005S.","family":"Hamblet","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Ragland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mervat","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Conyers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank\u2005J.","family":"Castora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,1,25]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410130116"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(87)91553-8"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.8.1302"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.6.1086"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1992.tb09439.x"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.6.1090"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mehy.2003.12.045"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1299"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960122)61:3<283::AID-AJMG15>3.0.CO;2-P"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1292-324"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0027-5107(97)00158-9"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0403649101"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2744(76)90028-0"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(80)90354-X"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.8.2766"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1.1.34"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(96)64044-0"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020503"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1193"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02772158"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.3201231"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/35047064"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1159\/000053372"},{"key":"e_1_2_1_26_2","first-page":"789","volume":"21","author":"Yoneda M.","year":"1990","journal-title":"Biochem. Int."},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00206061"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(05)80276-1"},{"key":"e_1_2_1_29_2","first-page":"1809","volume":"45","author":"Monnat R. J.","year":"1985","journal-title":"Cancer Res."},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.04.061"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0660-8"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1086\/375118"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.11.895"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90266-U"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020503"},{"key":"e_1_2_1_36_2","first-page":"1739","volume":"9","author":"Moyret C.","year":"1994","journal-title":"Oncogene"},{"key":"e_1_2_1_37_2","first-page":"490","volume":"17","author":"Vidal\u2010Puig A.","year":"1994","journal-title":"Methods Biotechniques"},{"key":"e_1_2_1_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/362059a0"},{"key":"e_1_2_1_39_2","doi-asserted-by":"publisher","DOI":"10.1006\/gyno.1995.1125"},{"key":"e_1_2_1_40_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.2.532"},{"key":"e_1_2_1_41_2","first-page":"590","volume":"49","author":"Kobayashi Y.","year":"1991","journal-title":"Ann. Neurol."},{"key":"e_1_2_1_42_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02099939"},{"key":"e_1_2_1_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)00079-O"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(91)92014-B"},{"key":"e_1_2_1_45_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100538"}],"container-title":["ELECTROPHORESIS"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Felps.200500420","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/elps.200500420","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T18:53:15Z","timestamp":1760554395000},"score":1,"resource":{"primary":{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/10.1002\/elps.200500420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1]]},"references-count":44,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["10.1002\/elps.200500420"],"URL":"https:\/\/doi.org\/10.1002\/elps.200500420","archive":["Portico"],"relation":{},"ISSN":["0173-0835","1522-2683"],"issn-type":[{"value":"0173-0835","type":"print"},{"value":"1522-2683","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,1]]}}}