{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:14:41Z","timestamp":1767831281874,"version":"3.49.0"},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T00:00:00Z","timestamp":1643414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010779","name":"Centre hospitalier universitaire Sainte-Justine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010779","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2022,3]]},"DOI":"10.1016\/j.ymgmr.2022.100847","type":"journal-article","created":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T11:22:15Z","timestamp":1644060135000},"page":"100847","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Expression signature of the Leigh syndrome French-Canadian type"],"prefix":"10.1016","volume":"30","author":[{"given":"Mbarka","family":"Bchetnia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Tardif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Morin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Laprise","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ymgmr.2022.100847_bb0005","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1055\/s-2001-17943","article-title":"Nuclear gene defects in respiratory chain disorders","volume":"21","author":"Shoubridge","year":"2001","journal-title":"Semin. Neurol."},{"issue":"2","key":"10.1016\/j.ymgmr.2022.100847_bb0010","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1086\/318197","article-title":"A genomewide linkage-disequilibrium scan localizes the Saguenay-lac-saint-Jean cytochrome oxidase deficiency to 2p16","volume":"68","author":"Lee","year":"2001","journal-title":"Am. J. Hum. Genet."},{"issue":"Pt 1","key":"10.1016\/j.ymgmr.2022.100847_bb0015","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1469-7793.2000.00057.x","article-title":"Mitochondria and calcium: from cell signalling to cell death","volume":"529","author":"Duchen","year":"2000","journal-title":"J. Physiol."},{"issue":"2","key":"10.1016\/j.ymgmr.2022.100847_bb0020","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1002\/path.4809","article-title":"The genetics and pathology of mitochondrial disease","volume":"241","author":"Alston","year":"2017","journal-title":"J. Pathol."},{"issue":"7424","key":"10.1016\/j.ymgmr.2022.100847_bb0025","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1038\/nature11707","article-title":"Mitochondrial disorders as windows into an ancient organelle","volume":"491","author":"Vafai","year":"2012","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.ymgmr.2022.100847_bb0030","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/ana.410390311","article-title":"Leigh syndrome: clinical features and biochemical and DNA abnormalities","volume":"39","author":"Rahman","year":"1996","journal-title":"Ann. Neurol."},{"issue":"3","key":"10.1016\/j.ymgmr.2022.100847_bb0035","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jmg.2010.081976","article-title":"LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency","volume":"48","author":"Debray","year":"2011","journal-title":"J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ymgmr.2022.100847_bb0040","first-page":"488","article-title":"Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-lac-saint-Jean","volume":"53","author":"Morin","year":"1993","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ymgmr.2022.100847_bb0045","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1073\/pnas.242716699","article-title":"Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics","volume":"100","author":"Mootha","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"8","key":"10.1016\/j.ymgmr.2022.100847_bb0050","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1091\/mbc.e10-01-0047","article-title":"LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria","volume":"21","author":"Sasarman","year":"2010","journal-title":"Mol. Biol. Cell"},{"issue":"2","key":"10.1016\/j.ymgmr.2022.100847_bb0055","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1093\/hmg\/ddu468","article-title":"Tissue-specific responses to the LRPPRC founder mutation in french Canadian Leigh syndrome","volume":"24","author":"Sasarman","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"2","key":"10.1016\/j.ymgmr.2022.100847_bb0060","first-page":"481","article-title":"A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-lac-saint-Jean region of Quebec","volume":"53","author":"Merante","year":"1993","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ymgmr.2022.100847_bb0065","article-title":"Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome french Canadian patients","volume":"10","author":"Burelle","year":"2015","journal-title":"PloS one."},{"issue":"Pt 1","key":"10.1016\/j.ymgmr.2022.100847_bb0070","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1042\/BJ20040469","article-title":"The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA","volume":"382","author":"Xu","year":"2004","journal-title":"The Biochemical journal."},{"issue":"18","key":"10.1016\/j.ymgmr.2022.100847_bb0075","doi-asserted-by":"crossref","first-page":"13742","DOI":"10.1074\/jbc.M109.098400","article-title":"Mitochondrial and nuclear genomic responses to loss of LRPPRC expression","volume":"285","author":"Gohil","year":"2010","journal-title":"J. Biol. Chem."},{"issue":"15","key":"10.1016\/j.ymgmr.2022.100847_bb0080","doi-asserted-by":"crossref","first-page":"2462","DOI":"10.1016\/j.ejca.2012.01.018","article-title":"Role of leucine-rich pentatricopeptide repeat motif-containing protein (LRPPRC) for anti-apoptosis and tumourigenesis in cancers","volume":"48","author":"Tian","year":"2012","journal-title":"Eur. J. Cancer"},{"key":"10.1016\/j.ymgmr.2022.100847_bb0085","doi-asserted-by":"crossref","first-page":"595","DOI":"10.3389\/fphys.2019.00595","article-title":"LRPPRC: a multifunctional protein involved in energy metabolism and human disease","volume":"10","author":"Cui","year":"2019","journal-title":"Front. Physiol."},{"issue":"1","key":"10.1016\/j.ymgmr.2022.100847_bb0090","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1093\/nar\/gkg034","article-title":"STRING: a database of predicted functional associations between proteins","volume":"31","author":"von Mering","year":"2003","journal-title":"Nucleic Acids Res."},{"issue":"3","key":"10.1016\/j.ymgmr.2022.100847_bb0095","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1093\/bioinformatics\/btq675","article-title":"Cytoscape 2.8: new features for data integration and network visualization","volume":"27","author":"Smoot","year":"2011","journal-title":"Bioinformatics"},{"issue":"7","key":"10.1016\/j.ymgmr.2022.100847_bb0100","doi-asserted-by":"crossref","DOI":"10.1186\/gb-2002-3-7-research0034","article-title":"Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes","volume":"3","author":"Vandesompele","year":"2002","journal-title":"Genome Biol."},{"issue":"2","key":"10.1016\/j.ymgmr.2022.100847_bb0105","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/emboj.2011.392","article-title":"LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs","volume":"31","author":"Ruzzenente","year":"2012","journal-title":"EMBO J."},{"issue":"16","key":"10.1016\/j.ymgmr.2022.100847_bb0110","doi-asserted-by":"crossref","first-page":"3186","DOI":"10.1093\/hmg\/ddx202","article-title":"Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion","volume":"26","author":"Cuillerier","year":"2017","journal-title":"Hum. Mol. Genet."},{"issue":"6","key":"10.1016\/j.ymgmr.2022.100847_bb0115","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1016\/j.cmet.2011.10.008","article-title":"Induction of the mitochondrial NDUFA4L2 protein by HIF-1alpha decreases oxygen consumption by inhibiting complex I activity","volume":"14","author":"Tello","year":"2011","journal-title":"Cell Metab."},{"issue":"1","key":"10.1016\/j.ymgmr.2022.100847_bb0120","doi-asserted-by":"crossref","first-page":"C58","DOI":"10.1152\/ajpcell.00160.2017","article-title":"mTORC1 is required for expression of LRPPRC and cytochrome-c oxidase but not HIF-1alpha in Leigh syndrome french Canadian type patient fibroblasts","volume":"317","author":"Mukaneza","year":"2019","journal-title":"Am. J. Physiol. Cell Physiol."},{"issue":"5","key":"10.1016\/j.ymgmr.2022.100847_bb0125","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0125617","article-title":"OXPHOS-mediated induction of NAD+ promotes complete oxidation of fatty acids and interdicts non-alcoholic fatty liver disease","volume":"10","author":"Akie","year":"2015","journal-title":"PloS one."},{"issue":"5","key":"10.1016\/j.ymgmr.2022.100847_bb0130","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/j.celrep.2015.09.054","article-title":"A metabolic signature of mitochondrial dysfunction revealed through a monogenic form of Leigh syndrome","volume":"13","author":"Thompson Legault","year":"2015","journal-title":"Cell Rep."},{"issue":"14","key":"10.1016\/j.ymgmr.2022.100847_bb0135","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.123231","article-title":"Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorder","volume":"4","author":"Ruiz","year":"2019","journal-title":"JCI insight."},{"issue":"33","key":"10.1016\/j.ymgmr.2022.100847_bb0140","doi-asserted-by":"crossref","first-page":"22968","DOI":"10.1074\/jbc.274.33.22968","article-title":"Coordinate induction of energy gene expression in tissues of mitochondrial disease patients","volume":"274","author":"Heddi","year":"1999","journal-title":"J. Biol. Chem."},{"issue":"3","key":"10.1016\/j.ymgmr.2022.100847_bb0145","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.mito.2005.03.002","article-title":"Adaptive responses to mitochondrial dysfunction in the rho degrees Namalwa cell","volume":"5","author":"Behan","year":"2005","journal-title":"Mitochondrion"},{"issue":"8","key":"10.1016\/j.ymgmr.2022.100847_bb0150","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1002\/cncr.28551","article-title":"Elevated levels of mitochondrion-associated autophagy inhibitor LRPPRC are associated with poor prognosis in patients with prostate cancer","volume":"120","author":"Jiang","year":"2014","journal-title":"Cancer"},{"issue":"10","key":"10.1016\/j.ymgmr.2022.100847_bb0155","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1002\/mc.22193","article-title":"Autophagy defects suggested by low levels of autophagy activator MAP1S and high levels of autophagy inhibitor LRPPRC predict poor prognosis of prostate cancer patients","volume":"54","author":"Jiang","year":"2015","journal-title":"Mol. Carcinog."},{"issue":"5","key":"10.1016\/j.ymgmr.2022.100847_bb0160","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1136\/jclinpath-2016-203926","article-title":"Elevated levels of autophagy-related marker ULK1 and mitochondrion-associated autophagy inhibitor LRPPRC are associated with biochemical progression and overall survival after androgen deprivation therapy in patients with metastatic prostate cancer","volume":"70","author":"Zhang","year":"2017","journal-title":"J. Clin. Pathol."},{"key":"10.1016\/j.ymgmr.2022.100847_bb0165","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s12014-016-9132-y","article-title":"Proteomic profiling of lung adenocarcinoma indicates heightened DNA repair, antioxidant mechanisms and identifies LASP1 as a potential negative predictor of survival","volume":"13","author":"Fahrmann","year":"2016","journal-title":"Clin. Proteomics"},{"issue":"6","key":"10.1016\/j.ymgmr.2022.100847_bb0170","doi-asserted-by":"crossref","first-page":"2065","DOI":"10.1172\/JCI45961","article-title":"The three R's of lung health and disease: repair, remodeling, and regeneration","volume":"121","author":"Beers","year":"2011","journal-title":"J. Clin. Invest."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100847_bb0175","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.freeradbiomed.2008.10.040","article-title":"Nrf2-regulated glutathione recycling independent of biosynthesis is critical for cell survival during oxidative stress","volume":"46","author":"Harvey","year":"2009","journal-title":"Free Radic. Biol. Med."},{"issue":"9","key":"10.1016\/j.ymgmr.2022.100847_bb0180","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1172\/JCI200421146","article-title":"Genetic ablation of Nrf2 enhances susceptibility to cigarette smoke-induced emphysema in mice","volume":"114","author":"Rangasamy","year":"2004","journal-title":"J. Clin. Invest."},{"issue":"7","key":"10.1016\/j.ymgmr.2022.100847_bb0185","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/nm.2157","article-title":"Rtp801, a suppressor of mTOR signaling, is an essential mediator of cigarette smoke-induced pulmonary injury and emphysema","volume":"16","author":"Yoshida","year":"2010","journal-title":"Nat. Med."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100847_bb0190","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.bbrc.2006.10.102","article-title":"Nrf2-dependent protection from LPS induced inflammatory response and mortality by CDDO-imidazolide","volume":"351","author":"Thimmulappa","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426922000076?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426922000076?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:52:44Z","timestamp":1762001564000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426922000076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":38,"alternative-id":["S2214426922000076"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100847","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2022,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expression signature of the Leigh syndrome French-Canadian type","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100847","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100847"}}