{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T22:19:51Z","timestamp":1782512391739,"version":"3.54.5"},"reference-count":46,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,3,1]],"date-time":"2020-03-01T00:00:00Z","timestamp":1583020800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,3,1]],"date-time":"2020-03-01T00:00:00Z","timestamp":1583020800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2020,3]]},"DOI":"10.1016\/j.mito.2020.01.004","type":"journal-article","created":{"date-parts":[[2020,1,7]],"date-time":"2020-01-07T08:52:28Z","timestamp":1578387148000},"page":"68-78","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"special_numbering":"C","title":["LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity"],"prefix":"10.1016","volume":"51","author":[{"given":"Arnaud","family":"Besse","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Brezavar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Hanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Austin","family":"Larson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope E.","family":"Bonnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mito.2020.01.004_b0005","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1212\/01.WNL.0000033795.17156.00","article-title":"Diagnostic criteria for respiratory chain disorders in adults and children","volume":"59","author":"Bernier","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2020.01.004_b0010","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.cmet.2015.02.008","article-title":"The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism","volume":"21","author":"Besse","year":"2015","journal-title":"Cell Metab."},{"key":"10.1016\/j.mito.2020.01.004_b0015","doi-asserted-by":"crossref","first-page":"D313","DOI":"10.1093\/nar\/gkw1132","article-title":"The SWISS-MODEL Repository-new features and functionality","volume":"45","author":"Bienert","year":"2017","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2020.01.004_b0020","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.ajhg.2013.07.017","article-title":"Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance","volume":"93","author":"Bonnen","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2020.01.004_b0025","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ncb836","article-title":"Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism","volume":"4","author":"Bota","year":"2002","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.mito.2020.01.004_b0030","doi-asserted-by":"crossref","DOI":"10.1038\/cddis.2013.204","article-title":"Overexpression of Lon contributes to survival and aggressive phenotype of cancer cells through mitochondrial complex I-mediated generation of reactive oxygen species","volume":"4","author":"Cheng","year":"2013","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.mito.2020.01.004_b0035","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1074\/jbc.M116.754127","article-title":"Regulation of pyruvate dehydrogenase kinase 4 in the heart through degradation by the Lon protease in response to mitochondrial substrate availability","volume":"292","author":"Crewe","year":"2017","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.01.004_b0040","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1002\/ajmg.a.37029","article-title":"Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome","volume":"167","author":"Dikoglu","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.mito.2020.01.004_b0045","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1093\/hmg\/ddh109","article-title":"Mitochondrial transcription factor A regulates mtDNA copy number in mammals","volume":"13","author":"Ekstrand","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2020.01.004_b0050","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1021\/bi970928c","article-title":"The human LON protease binds to mitochondrial promoters in a single-stranded, site-specific, strand-specific manner","volume":"37","author":"Fu","year":"1998","journal-title":"Biochemistry"},{"key":"10.1016\/j.mito.2020.01.004_b0055","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.cell.2007.01.047","article-title":"HIF-1 regulates cytochrome oxidase subunits to optimize efficiency of respiration in hypoxic cells","volume":"129","author":"Fukuda","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.mito.2020.01.004_b0060","doi-asserted-by":"crossref","first-page":"254","DOI":"10.3389\/fonc.2018.00254","article-title":"LonP1 differently modulates mitochondrial function and bioenergetics of primary versus metastatic colon cancer cells","volume":"8","author":"Gibellini","year":"2018","journal-title":"Front. Oncol."},{"key":"10.1016\/j.mito.2020.01.004_b0065","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1210\/me.2005-0458","article-title":"Turnover of mitochondrial steroidogenic acute regulatory (StAR) protein by Lon protease: the unexpected effect of proteasome inhibitors","volume":"21","author":"Granot","year":"2007","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.mito.2020.01.004_b0070","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1083\/jcb.200108103","article-title":"Transmission of cell stress from endoplasmic reticulum to mitochondria: enhanced expression of Lon protease","volume":"157","author":"Hori","year":"2002","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.mito.2020.01.004_b0075","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.1016\/j.jmb.2019.04.009","article-title":"Can predicted protein 3D structures provide reliable insights into whether missense variants are disease associated?","volume":"431","author":"Ittisoponpisan","year":"2019","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.mito.2020.01.004_b0080","doi-asserted-by":"crossref","first-page":"1750","DOI":"10.4161\/auto.26122","article-title":"The accumulation of misfolded proteins in the mitochondrial matrix is sensed by PINK1 to induce PARK2\/Parkin-mediated mitophagy of polarized mitochondria","volume":"9","author":"Jin","year":"2013","journal-title":"Autophagy"},{"key":"10.1016\/j.mito.2020.01.004_b0085","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1016\/S0969-2126(00)00520-7","article-title":"Buried charged surface in proteins","volume":"8","author":"Kajander","year":"2000","journal-title":"Structure"},{"key":"10.1016\/j.mito.2020.01.004_b0090","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1038\/nprot.2015.053","article-title":"The Phyre2 web portal for protein modeling, prediction and analysis","volume":"10","author":"Kelley","year":"2015","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.mito.2020.01.004_b0095","doi-asserted-by":"crossref","first-page":"33631","DOI":"10.1038\/srep33631","article-title":"The N-terminal domain plays a crucial role in the structure of a full-length human mitochondrial Lon protease","volume":"6","author":"Kereiche","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.mito.2020.01.004_b0100","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.jaapos.2017.10.012","article-title":"Clinical features of LONP1-related infantile cataract","volume":"22","author":"Khan","year":"2018","journal-title":"J. AAPOS"},{"key":"10.1016\/j.mito.2020.01.004_b0105","doi-asserted-by":"crossref","first-page":"18163","DOI":"10.1074\/jbc.M112.362699","article-title":"Diphenylarsinic acid promotes degradation of glutaminase C by mitochondrial Lon protease","volume":"287","author":"Kita","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.01.004_b9000","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq369","article-title":"RosettaBackrub\u2013a web server for flexible backbone protein structure modeling and design","volume":"38","author":"Lauck","year":"2010","journal-title":"Nucleic. Acids Res."},{"key":"10.1016\/j.mito.2020.01.004_b0110","doi-asserted-by":"crossref","first-page":"E69","DOI":"10.1152\/ajpendo.00461.2003","article-title":"Insulin suppresses PDK-4 expression in skeletal muscle independently of plasma FFA","volume":"287","author":"Lee","year":"2004","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"10.1016\/j.mito.2020.01.004_b0115","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1111\/tpj.13392","article-title":"Changes in specific protein degradation rates in Arabidopsis thaliana reveal multiple roles of Lon1 in mitochondrial protein homeostasis","volume":"89","author":"Li","year":"2017","journal-title":"Plant J."},{"key":"10.1016\/j.mito.2020.01.004_b0120","doi-asserted-by":"crossref","first-page":"13902","DOI":"10.1074\/jbc.M309642200","article-title":"DNA and RNA binding by the mitochondrial lon protease is regulated by nucleotide and protein substrate","volume":"279","author":"Liu","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.01.004_b0125","doi-asserted-by":"crossref","first-page":"17363","DOI":"10.1074\/jbc.M611540200","article-title":"Roles for the human ATP-dependent Lon protease in mitochondrial DNA maintenance","volume":"282","author":"Lu","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.01.004_b0130","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.molcel.2012.10.023","article-title":"Phosphorylation of human TFAM in mitochondria impairs DNA binding and promotes degradation by the AAA+ Lon protease","volume":"49","author":"Lu","year":"2013","journal-title":"Mol. Cell"},{"key":"10.1016\/j.mito.2020.01.004_b0135","doi-asserted-by":"crossref","first-page":"18410","DOI":"10.1073\/pnas.1008924107","article-title":"Mitochondrial Lon protease regulates mitochondrial DNA copy number and transcription by selective degradation of mitochondrial transcription factor A (TFAM)","volume":"107","author":"Matsushima","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mito.2020.01.004_b0140","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.1000298","article-title":"PINK1 is selectively stabilized on impaired mitochondria to activate Parkin","volume":"8","author":"Narendra","year":"2010","journal-title":"PLoS Biol."},{"key":"10.1016\/j.mito.2020.01.004_b0145","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1101\/gr.9.1.27","article-title":"AAA+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes","volume":"9","author":"Neuwald","year":"1999","journal-title":"Genome Res."},{"key":"10.1016\/j.mito.2020.01.004_b0150","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1093\/hmg\/ddy351","article-title":"Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy","volume":"28","author":"Nimmo","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2020.01.004_b0155","doi-asserted-by":"crossref","first-page":"25103","DOI":"10.1074\/jbc.M502796200","article-title":"Cleavage site selection within a folded substrate by the ATP-dependent lon protease","volume":"280","author":"Ondrovicova","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.01.004_b0160","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1128\/MCB.01337-13","article-title":"SirT3 regulates the mitochondrial unfolded protein response","volume":"34","author":"Papa","year":"2014","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.mito.2020.01.004_b0165","doi-asserted-by":"crossref","first-page":"1824","DOI":"10.1016\/j.cellsig.2015.05.020","article-title":"Pyruvate stimulates mitophagy via PINK1 stabilization","volume":"27","author":"Park","year":"2015","journal-title":"Cell. Signal."},{"key":"10.1016\/j.mito.2020.01.004_b0170","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1093\/hmg\/ddy080","article-title":"Defective mitochondrial protease LonP1 can cause classical mitochondrial disease","volume":"27","author":"Peter","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2020.01.004_b0175","doi-asserted-by":"crossref","first-page":"5815","DOI":"10.1093\/nar\/gkl703","article-title":"Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells","volume":"34","author":"Pohjoismaki","year":"2006","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2020.01.004_b0180","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.celrep.2014.06.018","article-title":"ATP-dependent Lon protease controls tumor bioenergetics by reprogramming mitochondrial activity","volume":"8","author":"Quiros","year":"2014","journal-title":"Cell Rep."},{"key":"10.1016\/j.mito.2020.01.004_b0185","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1126\/science.274.5284.103","article-title":"Promotion of mitochondrial membrane complex assembly by a proteolytically inactive yeast Lon","volume":"274","author":"Rep","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.mito.2020.01.004_b9005","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gki387","article-title":"The FoldX web server: an online force field","volume":"33","author":"Schymkowitz","year":"2005","journal-title":"Nucleic. Acids Res."},{"key":"10.1016\/j.mito.2020.01.004_b0190","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ajhg.2014.12.003","article-title":"CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease","volume":"96","author":"Strauss","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2020.01.004_b0195","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1126\/science.8146662","article-title":"Requirement for the yeast gene LON in intramitochondrial proteolysis and maintenance of respiration","volume":"264","author":"Suzuki","year":"1994","journal-title":"Science"},{"key":"10.1016\/j.mito.2020.01.004_b0200","doi-asserted-by":"crossref","first-page":"12679","DOI":"10.1073\/pnas.1308487110","article-title":"Oxygen-sensitive mitochondrial accumulation of cystathionine beta-synthase mediated by Lon protease","volume":"110","author":"Teng","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mito.2020.01.004_b0205","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004279","article-title":"PINK1-Parkin pathway activity is regulated by degradation of PINK1 in the mitochondrial matrix","volume":"10","author":"Thomas","year":"2014","journal-title":"PLoS Genet."},{"key":"10.1016\/j.mito.2020.01.004_b0210","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1073\/pnas.0911187107","article-title":"PINK1-dependent recruitment of Parkin to mitochondria in mitophagy","volume":"107","author":"Vives-Bauza","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mito.2020.01.004_b0215","doi-asserted-by":"crossref","first-page":"W296","DOI":"10.1093\/nar\/gky427","article-title":"SWISS-MODEL: homology modelling of protein structures and complexes","volume":"46","author":"Waterhouse","year":"2018","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2020.01.004_b0220","doi-asserted-by":"crossref","DOI":"10.1128\/MCB.00412-17","article-title":"LONP1 is required for maturation of a subset of mitochondrial proteins, and its loss elicits an integrated stress response","volume":"38","author":"Zurita Rendon","year":"2018","journal-title":"Mol. Cell. Biol."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724919302089?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724919302089?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T18:24:04Z","timestamp":1761589444000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724919302089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3]]},"references-count":46,"alternative-id":["S1567724919302089"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2020.01.004","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2020,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2020.01.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. and Mitochondria Research Society. All rights reserved.","name":"copyright","label":"Copyright"}]}}