{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T03:45:50Z","timestamp":1776138350472,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"1-4","license":[{"start":{"date-parts":[[2009,4,7]],"date-time":"2009-04-07T00:00:00Z","timestamp":1239062400000},"content-version":"vor","delay-in-days":462,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioFactors"],"published-print":{"date-parts":[[2008,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Coenzyme Q<jats:sub>10<\/jats:sub> (CoQ<jats:sub>10<\/jats:sub> or ubiquinone) is a lipid\u2010soluble component of virtually all cell membranes and has multiple metabolic functions. A major function of CoQ<jats:sub>10<\/jats:sub> is to transport electrons from complexes I and II to complex III in the respiratory chain which resides in the mitochondrial inner membrane. Deficiencies of CoQ<jats:sub>10<\/jats:sub> (MIM 607426) have been associated with four major clinical phenotypes: 1) encephalomyopathy characterized by a triad of recurrent myoglobinuria, brain involvement, and ragged\u2010red fibers; 2) infantile multisystemic disease typically with prominent nephropathy and encephalopathy; 3) cerebellar ataxia with marked cerebellar atrophy; and 4) pure myopathy. Primary CoQ<jats:sub>10<\/jats:sub> deficiencies due to mutations in ubiquinone biosynthetic genes (<jats:italic>COQ2<\/jats:italic>, <jats:italic>PDSS1<\/jats:italic>, <jats:italic>PDSS2<\/jats:italic>, and <jats:italic>ADCK3<\/jats:italic> [<jats:italic>CABC1<\/jats:italic>]) have been identified in patients with the infantile multisystemic and cerebellar ataxic phenotypes. In contrast, secondary CoQ<jats:sub>10<\/jats:sub> deficiencies, due to mutations in genes not directly related to ubiquinone biosynthesis (<jats:italic>APTX<\/jats:italic>, <jats:italic>ETFDH<\/jats:italic>, and <jats:italic>BRAF<\/jats:italic>), have been identified in patients with cerebellar ataxia, pure myopathy, and cardiofaciocutaneous syndrome. In many patients with CoQ<jats:sub>10<\/jats:sub> deficiencies, the causative molecular genetic defects remain unknown; therefore, it is likely that mutations in additional genes will be identified as causes of CoQ<jats:sub>10<\/jats:sub> deficiencies.<\/jats:p>","DOI":"10.1002\/biof.5520320113","type":"journal-article","created":{"date-parts":[[2009,4,7]],"date-time":"2009-04-07T15:01:52Z","timestamp":1239116512000},"page":"113-118","source":"Crossref","is-referenced-by-count":98,"title":["Human CoQ<sub>10<\/sub> deficiencies"],"prefix":"10.1002","volume":"32","author":[{"given":"C. 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C.L\u00f3pez J.Von\u2010Moltke A.Naini S.Krishna M.Schuelke L.Salviati P.Navas S.DiMauroandM.Hirano Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10deficiency Faseb J (2008).","DOI":"10.1096\/fj.07-100149"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.117575"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.08.043"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02531-9"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000172859.55579.a7"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.5.1238"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2003.11.012"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10371"}],"container-title":["BioFactors"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbiof.5520320113","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/iubmb.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/biof.5520320113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T16:44:56Z","timestamp":1693500296000},"score":1,"resource":{"primary":{"URL":"https:\/\/iubmb.onlinelibrary.wiley.com\/doi\/10.1002\/biof.5520320113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1]]},"references-count":34,"journal-issue":{"issue":"1-4","published-print":{"date-parts":[[2008,1]]}},"alternative-id":["10.1002\/biof.5520320113"],"URL":"https:\/\/doi.org\/10.1002\/biof.5520320113","archive":["Portico"],"relation":{},"ISSN":["0951-6433","1872-8081"],"issn-type":[{"value":"0951-6433","type":"print"},{"value":"1872-8081","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1]]}}}