{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:15:32Z","timestamp":1792048532644,"version":"4.4.0"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,11,12]],"date-time":"2012-11-12T00:00:00Z","timestamp":1352678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HD056103"],"award-info":[{"award-number":["R01HD056103"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1RC1NS070232"],"award-info":[{"award-number":["1RC1NS070232"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["faseb.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The FASEB Journal"],"published-print":{"date-parts":[[2013,2]]},"abstract":"\n Primary human CoQ\n 10<\/jats:sub>\n deficiencies are clinically heterogeneous diseases caused by mutations in\n PDSS2<\/jats:italic>\n and other genes required for CoQ\n 10<\/jats:sub>\n biosynthesis. Our\n in vitro<\/jats:italic>\n studies of\n PDSS2<\/jats:italic>\n mutant fibroblasts, with <20% CoQ\n 10<\/jats:sub>\n of control cells, revealed reduced activity of CoQ\n 10<\/jats:sub>\n \u2010dependent complex II+III and ATP synthesis, without amplification of reactive oxygen species (ROS), markers of oxidative damage, or antioxidant defenses. In contrast,\n COQ2<\/jats:italic>\n and\n ADCK3<\/jats:italic>\n mutant fibroblasts, with 30\u201350% CoQ\n 10<\/jats:sub>\n of controls, showed milder bioenergetic defects but significantly increased ROS and oxidation of lipids and proteins. We hypothesized that absence of oxidative stress markers and cell death in\n PDSS2<\/jats:italic>\n mutant fibroblasts were due to the extreme severity of CoQ\n 10<\/jats:sub>\n deficiency. Here, we have investigated\n in vivo<\/jats:italic>\n effects of\n Pdss2<\/jats:italic>\n deficiency in affected and unaffected organs of CBA\n \n \/Pdss2\n kd\/<\/jats:sup>\n <\/jats:italic>\n kd<\/jats:sup>\n mice at presymptomatic, phenotypic\u2010onset, and end\u2010stages of the disease. Although\n Pdss2<\/jats:italic>\n mutant mice manifest widespread CoQ\n 9<\/jats:sub>\n deficiency and mitochondrial respiratory chain abnormalities, only affected organs show increased ROS production, oxidative stress, mitochondrial DNA depletion, and reduced citrate synthase activity, an index of mitochondrial mass. Our data indicate that kidney\u2010specific loss of mitochondria triggered by oxidative stress may be the cause of renal failure in\n \n Pdss2\n kd\/<\/jats:sup>\n <\/jats:italic>\n kd<\/jats:sup>\n mice.\u2014Quinzii, C. M., Garone, C., Emmanuele, V., Tadesse, S., Krishna, S., Dorado, B., Hirano, M. Tissue\u2010specific oxidative stress and loss of mitochondria in CoQ\u2010deficient\n Pdss2<\/jats:italic>\n mutant mice.\n FASEB J.<\/jats:italic>\n 27, 612\u2013621 (2013).\n www.fasebj.org<\/jats:ext-link>\n <\/jats:p>","DOI":"10.1096\/fj.12-209361","type":"journal-article","created":{"date-parts":[[2012,11,13]],"date-time":"2012-11-13T20:15:12Z","timestamp":1352837712000},"page":"612-621","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":66,"title":["Tissue\u2010specific oxidative stress and loss of mitochondria in CoQ\u2010deficient\n Pdss2<\/i>\n mutant mice"],"prefix":"10.1096","volume":"27","author":[{"given":"Catarina M.","family":"Quinzii","sequence":"first","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Garone","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York USA"},{"name":"Human Genetics Joint Ph.D. Program University of Bologna and Turin Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Emmanuele","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York USA"},{"name":"Pediatric Clinic University of Genoa Istituto di Ricovero e Cura a Carattere Scientifico G. Gaslini Institute Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saba","family":"Tadesse","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sindu","family":"Krishna","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Dorado","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michio","family":"Hirano","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2007.03.007"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2012.206"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/510023"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.07-100149"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.09-152728"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0030606"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaut.2005.10.006"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1755.2004.00702.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000061"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2011.09.011"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.90445.2008"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.1.41"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410220409"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1046-2023(02)00037-3"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymeth.2008.09.027"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0937239100"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.freeradbiomed.2011.09.030"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq453"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006080833"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI45693"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M108980200"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1474-9728.2004.00116.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C100346200"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1080\/10715760100300551"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/10715760290021216"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0011897"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm058"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.4161\/auto.5.1.7174"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1064653"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201100149"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2009.352"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn309"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2007.03.006"}],"container-title":["The 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