{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T09:43:08Z","timestamp":1790934188268,"version":"4.1.0"},"reference-count":69,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,7,8]],"date-time":"2015-07-08T00:00:00Z","timestamp":1436313600000},"content-version":"vor","delay-in-days":188,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1016\/j.ajhg.2014.12.003","type":"journal-article","created":{"date-parts":[[2015,1,8]],"date-time":"2015-01-08T16:46:49Z","timestamp":1420735609000},"page":"121-135","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":164,"title":["CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease"],"prefix":"10.1016","volume":"96","author":[{"given":"Kevin\u00a0A.","family":"Strauss","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert\u00a0N.","family":"Jinks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik\u00a0G.","family":"Puffenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sundararajan","family":"Venkatesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamalendra","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iteen","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Mikita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayapalraja","family":"Thilagavathi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Sarafianos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Benkert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alanna","family":"Koehler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anni","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Trovillion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"McGlincy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Morlet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Deardorff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.\u00a0Micheil","family":"Innes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert\u00a0E.","family":"Chudley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene\u00a0Nga\u00a0Wing","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn\u00a0K.","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2014.12.003_bib1","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/ajmg.1320400118","article-title":"Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome\u2014a case report","volume":"40","author":"Shebib","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2014.12.003_bib2","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/ajmg.1320550107","article-title":"CODAS syndrome: a new distinct MCA\/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report","volume":"55","author":"de Almeida","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2014.12.003_bib3","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1002\/1096-8628(20010722)102:1<44::AID-AJMG1410>3.0.CO;2-7","article-title":"Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature","volume":"102","author":"Innes","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2014.12.003_bib4","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1002\/ajmg.a.33242","article-title":"Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis","volume":"152A","author":"Marlin","year":"2010","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2014.12.003_bib5","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/j.bbapap.2008.02.010","article-title":"Functional mechanics of the ATP-dependent Lon protease- lessons from endogenous protein and synthetic peptide substrates","volume":"1784","author":"Lee","year":"2008","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2014.12.003_bib6","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nrm1684","article-title":"AAA+ proteins: have engine, will work","volume":"6","author":"Hanson","year":"2005","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib7","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.ajhg.2014.12.003_bib8","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1139\/O09-167","article-title":"Diverse functions of mitochondrial AAA+ proteins: protein activation, disaggregation, and degradation","volume":"88","author":"Truscott","year":"2010","journal-title":"Biochem. Cell Biol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib9","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.bbamcr.2011.11.003","article-title":"Multitasking in the mitochondrion by the ATP-dependent Lon protease","volume":"1823","author":"Venkatesh","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2014.12.003_bib10","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.ajhg.2013.02.013","article-title":"Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease","volume":"92","author":"Jenkinson","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2014.12.003_bib11","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","article-title":"Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease","volume":"93","author":"Casari","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2014.12.003_bib12","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S0014-5793(02)03638-4","article-title":"Modulation of Lon protease activity and aconitase turnover during aging and oxidative stress","volume":"532","author":"Bota","year":"2002","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ajhg.2014.12.003_bib13","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.ajhg.2014.12.003_bib14","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.redox.2013.01.015","article-title":"Upregulation of the mitochondrial Lon Protease allows adaptation to acute oxidative stress but dysregulation is associated with chronic stress, disease, and aging","volume":"1","author":"Ngo","year":"2013","journal-title":"Redox Biol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib15","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.ajhg.2014.12.003_bib16","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.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib17","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.ajhg.2014.12.003_bib18","doi-asserted-by":"crossref","first-page":"26424","DOI":"10.1074\/jbc.M110.215772","article-title":"Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells","volume":"286","author":"Tian","year":"2011","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2014.12.003_bib19","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.ajhg.2014.12.003_bib20","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/mmi.12444","article-title":"Roles of the N domain of the AAA+ Lon protease in substrate recognition, allosteric regulation and chaperone activity","volume":"91","author":"Wohlever","year":"2014","journal-title":"Mol. Microbiol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib21","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.ajhg.2014.12.003_bib22","doi-asserted-by":"crossref","first-page":"273","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.ajhg.2014.12.003_bib23","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/S0021-9258(17)42340-4","article-title":"PIM1 encodes a mitochondrial ATP-dependent protease that is required for mitochondrial function in the yeast Saccharomyces cerevisiae","volume":"269","author":"Van Dyck","year":"1994","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2014.12.003_bib24","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0378-1119(03)00403-7","article-title":"The ATP-dependent Lon protease of Mus musculus is a DNA-binding protein that is functionally conserved between yeast and mammals","volume":"306","author":"Lu","year":"2003","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2014.12.003_bib25","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.ajhg.2014.12.003_bib26","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.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2014.12.003_bib27","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1093\/nar\/gkm1140","article-title":"Thermodynamic characterization of specific interactions between the human Lon protease and G-quartet DNA","volume":"36","author":"Chen","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2014.12.003_bib28","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.ajhg.2010.01.028","article-title":"Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease","volume":"86","author":"Lohr","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2014.12.003_bib29","doi-asserted-by":"crossref","first-page":"11689","DOI":"10.1073\/pnas.0401194101","article-title":"Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function","volume":"101","author":"Puffenberger","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2014.12.003_bib30","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1093\/brain\/awm100","article-title":"Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5","volume":"130","author":"Puffenberger","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2014.12.003_bib31","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1016\/j.ajhg.2008.09.018","article-title":"Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10","volume":"83","author":"Sherman","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2014.12.003_bib32","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.clim.2008.02.016","article-title":"Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency","volume":"128","author":"Strauss","year":"2008","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib33","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1002\/ajmg.a.30961","article-title":"Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population","volume":"138A","author":"Strauss","year":"2005","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2014.12.003_bib34","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/nbt.1523","article-title":"Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing","volume":"27","author":"Gnirke","year":"2009","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib35","doi-asserted-by":"crossref","first-page":"e28936","DOI":"10.1371\/journal.pone.0028936","article-title":"Genetic mapping and exome sequencing identify variants associated with five novel diseases","volume":"7","author":"Puffenberger","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2014.12.003_bib36","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1002\/humu.22237","article-title":"A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder","volume":"33","author":"Puffenberger","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2014.12.003_bib37","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2014.12.003_bib38","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.jmb.2010.06.030","article-title":"Crystal structures of Bacillus subtilis Lon protease","volume":"401","author":"Duman","year":"2010","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib39","doi-asserted-by":"crossref","first-page":"3321","DOI":"10.1182\/blood-2011-02-340075","article-title":"The mitochondrial ATP-dependent Lon protease:\u00a0a novel target in lymphoma death mediated by the synthetic triterpenoid CDDO and its derivatives","volume":"119","author":"Bernstein","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2014.12.003_bib40","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1006\/abio.2001.4988","article-title":"Adenosine triphosphate-dependent degradation of a fluorescent lambda N substrate mimic by Lon protease","volume":"291","author":"Lee","year":"2001","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ajhg.2014.12.003_bib41","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.ajhg.2014.12.003_bib42","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/0003-2697(76)90527-3","article-title":"A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding","volume":"72","author":"Bradford","year":"1976","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ajhg.2014.12.003_bib43","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1002\/pro.5560041120","article-title":"How to measure and predict the molar absorption coefficient of a protein","volume":"4","author":"Pace","year":"1995","journal-title":"Protein Sci."},{"key":"10.1016\/j.ajhg.2014.12.003_bib44","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":"Ondrovicov\u00e1","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2014.12.003_bib45","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1021\/cb100408w","article-title":"Active-site-directed chemical tools for profiling mitochondrial Lon protease","volume":"6","author":"Fishovitz","year":"2011","journal-title":"ACS Chem. Biol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib46","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.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2014.12.003_bib47","doi-asserted-by":"crossref","first-page":"247","DOI":"10.3109\/01913128409018580","article-title":"Diagnostic electron microscopy on reembedded (\u201cpopped off\u201d) areas of large Spurr epoxy sections","volume":"6","author":"di Sant\u2019Agnese","year":"1984","journal-title":"Ultrastruct. Pathol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib48","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/nrneurol.2013.126","article-title":"The clinical maze of mitochondrial neurology","volume":"9","author":"DiMauro","year":"2013","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.ajhg.2014.12.003_bib49","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.mito.2004.07.010","article-title":"Metabolomic approaches to mitochondrial disease: correlation of urine organic acids","volume":"4","author":"Barshop","year":"2004","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ajhg.2014.12.003_bib50","doi-asserted-by":"crossref","first-page":"8140","DOI":"10.1074\/jbc.M312243200","article-title":"The catalytic domain\u00a0of Escherichia coli Lon protease has a unique fold and a Ser-Lys dyad in the active site","volume":"279","author":"Botos","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2014.12.003_bib51","doi-asserted-by":"crossref","first-page":"9418","DOI":"10.1021\/bi0255470","article-title":"Kinetic characterization of the peptidase activity of Escherichia coli Lon reveals the mechanistic similarities in ATP-dependent hydrolysis of peptide and protein substrates","volume":"41","author":"Thomas-Wohlever","year":"2002","journal-title":"Biochemistry"},{"key":"10.1016\/j.ajhg.2014.12.003_bib52","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. USA"},{"key":"10.1016\/j.ajhg.2014.12.003_bib53","doi-asserted-by":"crossref","first-page":"6765","DOI":"10.1093\/nar\/gkp750","article-title":"Biophysical characterizations of human mitochondrial transcription factor A and its binding to tumor suppressor p53","volume":"37","author":"Wong","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2014.12.003_bib54","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.ajhg.2014.12.003_bib55","doi-asserted-by":"crossref","first-page":"e1004279","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.ajhg.2014.12.003_bib56","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/j.mcn.2008.12.010","article-title":"Molecular interaction between parkin and PINK1\u00a0in mammalian neuronal cells","volume":"40","author":"Um","year":"2009","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.ajhg.2014.12.003_bib57","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1111\/j.1471-4159.2008.05398.x","article-title":"Characterization of PINK1 processing, stability, and subcellular localization","volume":"106","author":"Lin","year":"2008","journal-title":"J.\u00a0Neurochem."},{"key":"10.1016\/j.ajhg.2014.12.003_bib58","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":"Quir\u00f3s","year":"2014","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2014.12.003_bib59","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.jmb.2011.02.044","article-title":"Transcriptional and cellular responses to defective mitochondrial proteolysis in fission yeast","volume":"408","author":"Guha","year":"2011","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib60","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.bbamcr.2006.04.006","article-title":"Structure and dynamics of the mitochondrial inner membrane cristae","volume":"1763","author":"Mannella","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2014.12.003_bib61","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S1534-5807(01)00116-2","article-title":"A distinct pathway remodels mitochondrial cristae and mobilizes cytochrome c during apoptosis","volume":"2","author":"Scorrano","year":"2002","journal-title":"Dev. Cell"},{"issue":"Pt B","key":"10.1016\/j.ajhg.2014.12.003_bib62","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.mito.2014.03.005","article-title":"Mitochondrial ATP-dependent proteases in protection against accumulation of carbonylated proteins","volume":"19","author":"Smakowska","year":"2014","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ajhg.2014.12.003_bib63","doi-asserted-by":"crossref","first-page":"12679","DOI":"10.1073\/pnas.1308487110","article-title":"Oxygen-sensitive mitochondrial accumulation of cystathionine \u03b2-synthase mediated by Lon protease","volume":"110","author":"Teng","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2014.12.003_bib64","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1104\/pp.112.203711","article-title":"Loss of Lon1 in Arabidopsis changes the mitochondrial proteome leading to altered metabolite profiles and growth retardation without an accumulation of oxidative damage","volume":"160","author":"Solheim","year":"2012","journal-title":"Plant Physiol."},{"key":"10.1016\/j.ajhg.2014.12.003_bib65","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1016\/j.ajhg.2009.04.004","article-title":"The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency","volume":"84","author":"Di Fonzo","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2014.12.003_bib66","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1097\/01.nrl.0000106919.06469.04","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes","volume":"10","author":"Hirano","year":"2004","journal-title":"Neurologist"},{"key":"10.1016\/j.ajhg.2014.12.003_bib67","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/emboj.2012.300","article-title":"OXPHOS mutations and neurodegeneration","volume":"32","author":"Koopman","year":"2013","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2014.12.003_bib68","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.nbd.2012.03.007","article-title":"The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases","volume":"51","author":"Breuer","year":"2013","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ajhg.2014.12.003_bib69","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1002\/prot.24550","article-title":"Helix kinks are equally prevalent in soluble and membrane proteins","volume":"82","author":"Wilman","year":"2014","journal-title":"Proteins"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929714005096?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929714005096?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T12:47:32Z","timestamp":1717678052000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929714005096"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":69,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["S0002929714005096"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2014.12.003","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2014.12.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}