{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T05:35:08Z","timestamp":1790660108893,"version":"4.1.0"},"reference-count":63,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T00:00:00Z","timestamp":1662595200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Australian National Health and Medical Research Council"},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["1074258"],"award-info":[{"award-number":["1074258"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["1140906"],"award-info":[{"award-number":["1140906"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["1054432"],"award-info":[{"award-number":["1054432"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["1126995"],"award-info":[{"award-number":["1126995"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["2009732"],"award-info":[{"award-number":["2009732"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["1062854"],"award-info":[{"award-number":["1062854"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improve health outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>We aimed to determine the genetic cause of syndromic POI, intellectual disability, neutropenia, and cataracts.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed whole-exome sequencing (WES) followed by functional validation via RT-PCR, RNAseq, and quantitative proteomics, as well as clinical update of previously reported patients with variants in the caseinolytic peptidase B (CLPB) gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified causative variants in CLPB, encoding a mitochondrial disaggregase. Variants in this gene are known to cause an autosomal recessive syndrome involving 3-methylglutaconic aciduria, neurological dysfunction, cataracts, and neutropenia that is often fatal in childhood; however, there is likely a reporting bias toward severe cases. Using RNAseq and quantitative proteomics we validated causation and gained insight into genotype:phenotype correlation. Clinical follow-up of patients with CLPB deficiency who survived to adulthood identified POI and infertility as a common postpubertal ailment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>A novel splicing variant is associated with CLPB deficiency in an individual who survived to adulthood. POI is a common feature of postpubertal female individuals with CLPB deficiency. Patients with CLPB deficiency should be referred to pediatric gynecologists\/endocrinologists for prompt POI diagnosis and hormone replacement therapy to minimize associated comorbidities.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgac528","type":"journal-article","created":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T14:29:19Z","timestamp":1662647359000},"page":"3328-3340","source":"Crossref","is-referenced-by-count":34,"title":["Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights"],"prefix":"10.1210","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6380-5100","authenticated-orcid":false,"given":"Elena J","family":"Tucker","sequence":"first","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"},{"name":"Department of Paediatrics, University of Melbourne , Melbourne, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan J","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Pharmacology, The University of Melbourne , Parkville, VIC 3010 , Australia"},{"name":"Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne , Parkville, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniella H","family":"Hock","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Pharmacology, The University of Melbourne , Parkville, VIC 3010 , Australia"},{"name":"Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne , Parkville, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia T","family":"Warren","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Department of Pediatrics, Washington University School of Medicine , Saint Louis, MO 63110 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0593-0261","authenticated-orcid":false,"given":"Sylvie","family":"Jaillard","sequence":"additional","affiliation":[{"name":"Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de recherche en sant\u00e9, environnement et travail)\u2014UMR_S 1085 , F-35000 Rennes , France"},{"name":"CHU Rennes, Service de Cytog\u00e9n\u00e9tique et Biologie Cellulaire , F-35033 Rennes , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina M","family":"Bell","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajini","family":"Sreenivasan","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"},{"name":"Department of Paediatrics, University of Melbourne , Melbourne, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shabnam","family":"Bakhshalizadeh","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"},{"name":"Department of Paediatrics, University of Melbourne , Melbourne, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe A","family":"Hanna","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"},{"name":"Department of Paediatrics, University of Melbourne , Melbourne, VIC 3010 , Australia"},{"name":"Department of Gynaecology, The Royal Children's Hospital , Melbourne, VIC 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikeisha J","family":"Caruana","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Pharmacology, The University of Melbourne , Parkville, VIC 3010 , Australia"},{"name":"Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne , Parkville, VIC 3010 , Australia"},{"name":"Institute for Health and Sport (IHES), Victoria University , Melbourne, VIC, 3011 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia B","family":"Wortmann","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Paracelsus Medical University (PMU) , Salzburg 5020 , Austria"},{"name":"Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc , Nijmegen 6524 , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shamima","family":"Rahman","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, and Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert D S","family":"Pitceathly","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Donadieu","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Service d\u2019H\u00e9mato-oncologie P\u00e9diatrique, Assistance Publique-Hopitaux de Paris (AP-HP), H\u00f4pital Trousseau , Paris 75006 , France"},{"name":"Registre Fran\u00e7ais des Neutrop\u00e9nies Cong\u00e9nitales, H\u00f4pital Trousseau , Paris 75006 , France"},{"name":"Centre de R\u00e9f\u00e9rence des Neutrop\u00e9nies Chroniques, AP-HP, H\u00f4pital Trousseau , Paris 75006 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelia","family":"Alimi","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Service d\u2019H\u00e9mato-oncologie P\u00e9diatrique, Assistance Publique-Hopitaux de Paris (AP-HP), H\u00f4pital Trousseau , Paris 75006 , France"},{"name":"Registre Fran\u00e7ais des Neutrop\u00e9nies Cong\u00e9nitales, H\u00f4pital Trousseau , Paris 75006 , France"},{"name":"Centre de R\u00e9f\u00e9rence des Neutrop\u00e9nies Chroniques, AP-HP, H\u00f4pital Trousseau , Paris 75006 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Launay","sequence":"additional","affiliation":[{"name":"Hematologie, Centre Hospitalier de St Brieuc , Paris 22027 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Coppo","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Service d\u2019h\u00e9matologie H\u00f4pital Saint-Antoine, AP-HP, Paris 75006 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Christin-Maitre","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Service d\u2019Endocrinologie, diab\u00e9tologie et m\u00e9decine de la reproduction H\u00f4pital Saint-Antoine, AP-HP, Paris 75006 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorjana","family":"Robevska","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"van den Bergen","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brianna L","family":"Kline","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie L","family":"Ayers","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"},{"name":"Department of Paediatrics, University of Melbourne , Melbourne, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phoebe N","family":"Stewart","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The Royal Hobart Hospital , Tasmania 7000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Stroud","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"},{"name":"Department of Biochemistry and Pharmacology, The University of Melbourne , Parkville, VIC 3010 , Australia"},{"name":"Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne , Parkville, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Stojanovski","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Pharmacology, The University of Melbourne , Parkville, VIC 3010 , Australia"},{"name":"Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne , Parkville, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew H","family":"Sinclair","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne, VIC 3052 , Australia"},{"name":"Department of Paediatrics, University of Melbourne , Melbourne, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2022,9,9]]},"reference":[{"issue":"6094","key":"2022112511292465200_dgac528-B1","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1126\/science.1223560","article-title":"Mitochondrial import efficiency of ATFS-1 regulates mitochondrial UPR activation","volume":"337","author":"Nargund","year":"2012","journal-title":"Science"},{"issue":"8","key":"2022112511292465200_dgac528-B2","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1038\/cdd.2012.5","article-title":"Genetic analysis of mitochondrial protein misfolding in Drosophila melanogaster","volume":"19","author":"Pimenta de Castro","year":"2012","journal-title":"Cell Death Differ"},{"issue":"3","key":"2022112511292465200_dgac528-B3","doi-asserted-by":"crossref","first-page":"e1003346","DOI":"10.1371\/journal.pgen.1003346","article-title":"Surveillance-activated defenses block the ROS-induced mitochondrial unfolded protein response","volume":"9","author":"Runkel","year":"2013","journal-title":"PLoS Genet"},{"key":"2022112511292465200_dgac528-B4","doi-asserted-by":"crossref","first-page":"e55279","DOI":"10.7554\/eLife.55279","article-title":"Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations","volume":"9","author":"Cupo","year":"2020","journal-title":"Elife"},{"issue":"2","key":"2022112511292465200_dgac528-B5","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.ajhg.2014.12.020","article-title":"CLPB Variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria","volume":"96","author":"Saunders","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"2","key":"2022112511292465200_dgac528-B6","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ajhg.2014.12.013","article-title":"CLPB Mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder","volume":"96","author":"Wortmann","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2022112511292465200_dgac528-B7","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/jmedgenet-2014-102952","article-title":"Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria","volume":"52","author":"Capo-Chichi","year":"2015","journal-title":"J Med Genet"},{"issue":"6","key":"2022112511292465200_dgac528-B8","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1007\/s10545-017-0057-z","article-title":"A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients","volume":"40","author":"Pronicka","year":"2017","journal-title":"J Inherit Metab Dis"},{"issue":"5","key":"2022112511292465200_dgac528-B9","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1182\/blood.2021010762","article-title":"Heterozygous variants of CLPB are a cause of severe congenital neutropenia","volume":"139","author":"Warren","year":"2021","journal-title":"Blood"},{"issue":"9","key":"2022112511292465200_dgac528-B10","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1038\/s41436-021-01194-x","article-title":"Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency","volume":"23","author":"Wortmann","year":"2021","journal-title":"Genet Med"},{"key":"2022112511292465200_dgac528-B11","doi-asserted-by":"crossref","first-page":"101168","DOI":"10.1016\/j.arr.2020.101168","article-title":"Mitochondria in ovarian aging and reproductive longevity","volume":"63","author":"Chiang","year":"2020","journal-title":"Ageing Res Rev"},{"key":"2022112511292465200_dgac528-B12","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/S0070-2153(06)77004-1","volume-title":"The Mitochondrion in the Germline and Early Development","author":"Shoubridge","year":"2007"},{"issue":"12","key":"2022112511292465200_dgac528-B13","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1093\/molehr\/2.12.895","article-title":"The oxidizing agent tertiary butyl hydroperoxide induces disturbances in spindle organization, c-meiosis, and aneuploidy in mouse oocytes","volume":"2","author":"Tarin","year":"1996","journal-title":"Mol Hum Reprod"},{"issue":"4 Suppl","key":"2022112511292465200_dgac528-B14","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1016\/j.fertnstert.2007.02.067","article-title":"Oxidative stress and tumor necrosis factor-alpha-induced alterations in metaphase II mouse oocyte spindle structure","volume":"88","author":"Choi","year":"2007","journal-title":"Fertil Steril"},{"issue":"10","key":"2022112511292465200_dgac528-B15","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1210\/en.2019-00441","article-title":"Mitochondrial dysfunction in primary ovarian insufficiency","volume":"160","author":"Tiosano","year":"2019","journal-title":"Endocrinology"},{"issue":"1","key":"2022112511292465200_dgac528-B16","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3109\/13697137.2015.1094784","article-title":"Effect of primary ovarian insufficiency and early natural menopause on mortality: a meta-analysis","volume":"19","author":"Tao","year":"2016","journal-title":"Climacteric"},{"issue":"3","key":"2022112511292465200_dgac528-B17","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1002\/mpo.10341","article-title":"Management of osteoporosis due to ovarian failure","volume":"41","author":"Eastell","year":"2003","journal-title":"Med Pediatr Oncol"},{"issue":"1","key":"2022112511292465200_dgac528-B18","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1530\/EJE-18-0602","article-title":"Early menopause and premature ovarian insufficiency are associated with increased risk of type 2 diabetes: a systematic review and meta-analysis","volume":"180","author":"Anagnostis","year":"2019","journal-title":"Eur J Endocrinol"},{"issue":"6","key":"2022112511292465200_dgac528-B19","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1210\/er.2016-1047","article-title":"Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum","volume":"37","author":"Tucker","year":"2016","journal-title":"Endocr Rev"},{"issue":"9","key":"2022112511292465200_dgac528-B20","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1038\/s41431-018-0140-4","article-title":"Identification of variants in pleiotropic genes causing \u201cisolated\u201d premature ovarian insufficiency: implications for medical practice","volume":"26","author":"Tucker","year":"2018","journal-title":"Eur J Hum Genet"},{"issue":"12","key":"2022112511292465200_dgac528-B21","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s11883-018-0758-2","article-title":"Emerging research on the implications of hormone replacement therapy on coronary heart disease","volume":"20","author":"Keck","year":"2018","journal-title":"Curr Atheroscler Rep"},{"issue":"12","key":"2022112511292465200_dgac528-B22","doi-asserted-by":"crossref","first-page":"3961","DOI":"10.3390\/jcm9123961","article-title":"Impact of hormonal replacement therapy on bone mineral density in premature ovarian insufficiency patients","volume":"9","author":"Podfigurna","year":"2020","journal-title":"J Clin Med"},{"key":"2022112511292465200_dgac528-B23","doi-asserted-by":"crossref","first-page":"626534","DOI":"10.3389\/fendo.2021.626534","article-title":"Can inhibin B reflect ovarian reserve of healthy reproductive age women effectively?","volume":"12","author":"Wen","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"1","key":"2022112511292465200_dgac528-B24","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/s13073-015-0191-x","article-title":"Cpipe: a shared variant detection pipeline designed for diagnostic settings","volume":"7","author":"Sadedin","year":"2015","journal-title":"Genome Med"},{"issue":"7","key":"2022112511292465200_dgac528-B25","first-page":"40","article-title":"TP63-truncating Variants cause isolated premature ovarian insufficiency","author":"Tucker","year":"2019","journal-title":"Hum Mutat"},{"issue":"4","key":"2022112511292465200_dgac528-B26","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nmeth.3317","article-title":"HISAT: a fast spliced aligner with low memory requirements","volume":"12","author":"Kim","year":"2015","journal-title":"Nat Methods"},{"issue":"14","key":"2022112511292465200_dgac528-B27","doi-asserted-by":"crossref","first-page":"2400","DOI":"10.1093\/bioinformatics\/btv034","article-title":"Quantitative visualization of alternative exon expression from RNA-seq data","volume":"31","author":"Katz","year":"2015","journal-title":"Bioinformatics"},{"issue":"44","key":"2022112511292465200_dgac528-B28","doi-asserted-by":"crossref","first-page":"42197","DOI":"10.1074\/jbc.M205613200","article-title":"Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane","volume":"277","author":"Johnston","year":"2002","journal-title":"J Biol Chem"},{"issue":"2","key":"2022112511292465200_dgac528-B29","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/0003-2697(87)90587-2","article-title":"Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100\u2005kDa","volume":"166","author":"Schagger","year":"1987","journal-title":"Anal Biochem"},{"issue":"6","key":"2022112511292465200_dgac528-B30","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1007\/s10545-012-9579-6","article-title":"3-Methylglutaconic Aciduria\u2013lessons from 50 genes and 977 patients","volume":"36","author":"Wortmann","year":"2013","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"2022112511292465200_dgac528-B31","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/S1097-2765(00)00039-3","article-title":"The protooncogene TCL1 is an akt kinase coactivator","volume":"6","author":"Laine","year":"2000","journal-title":"Mol Cell"},{"issue":"2","key":"2022112511292465200_dgac528-B32","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.jmb.2004.02.069","article-title":"Structural and functional characterization of mitochondrial EndoG, a sugar non-specific nuclease which plays an important role during apoptosis","volume":"338","author":"Schafer","year":"2004","journal-title":"J Mol Biol"},{"issue":"2","key":"2022112511292465200_dgac528-B33","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1038\/cdd.2013.139","article-title":"Building blocks of the apoptotic pore: how Bax and Bak are activated and oligomerize during apoptosis","volume":"21","author":"Westphal","year":"2014","journal-title":"Cell Death Differ"},{"issue":"1","key":"2022112511292465200_dgac528-B34","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1038\/ng1940","article-title":"HAX1 Deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)","volume":"39","author":"Klein","year":"2007","journal-title":"Nat Genet"},{"issue":"2","key":"2022112511292465200_dgac528-B35","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s10545-015-9813-0","article-title":"Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation","volume":"38","author":"Kanabus","year":"2015","journal-title":"J Inherit Metab Dis"},{"issue":"6","key":"2022112511292465200_dgac528-B36","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1007\/s10875-017-0412-8","article-title":"Delayed puberty and gonadal failure in patients with HAX1 mutation","volume":"37","author":"Cekic","year":"2017","journal-title":"J Clin Immunol"},{"key":"2022112511292465200_dgac528-B37","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.clim.2016.02.008","article-title":"Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia","volume":"165","author":"Kiykim","year":"2016","journal-title":"Clin Immunol"},{"issue":"1","key":"2022112511292465200_dgac528-B38","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1186\/s12967-016-0930-9","article-title":"New perspective in diagnostics of mitochondrial disorders: two years\u2019 experience with whole-exome sequencing at a national paediatric centre","volume":"14","author":"Pronicka","year":"2016","journal-title":"J Transl Med"},{"issue":"7531","key":"2022112511292465200_dgac528-B39","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1038\/nature13818","article-title":"Mitochondrial UPR-regulated innate immunity provides resistance to pathogen infection","volume":"516","author":"Pellegrino","year":"2014","journal-title":"Nature"},{"key":"2022112511292465200_dgac528-B40","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3389\/fcell.2018.00031","article-title":"Sensing the stress: a role for the UPR(mt) and UPR(am) in the quality control of mitochondria","volume":"6","author":"Callegari","year":"2018","journal-title":"Front Cell Dev Biol"},{"issue":"4","key":"2022112511292465200_dgac528-B41","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.devcel.2007.07.016","article-title":"Clpp mediates activation of a mitochondrial unfolded protein response in C. elegans","volume":"13","author":"Haynes","year":"2007","journal-title":"Dev Cell"},{"issue":"20","key":"2022112511292465200_dgac528-B42","doi-asserted-by":"crossref","first-page":"14429","DOI":"10.1074\/jbc.274.20.14429","article-title":"Up-regulation of nuclear and mitochondrial genes in the skeletal muscle of mice lacking the heart\/muscle isoform of the adenine nucleotide translocator","volume":"274","author":"Murdock","year":"1999","journal-title":"J Biol Chem"},{"issue":"9","key":"2022112511292465200_dgac528-B43","doi-asserted-by":"crossref","first-page":"e874","DOI":"10.1371\/journal.pone.0000874","article-title":"Discovery of genes activated by the mitochondrial unfolded protein response (mtUPR) and cognate promoter elements","volume":"2","author":"Aldridge","year":"2007","journal-title":"PLoS One"},{"issue":"1","key":"2022112511292465200_dgac528-B44","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1534\/genetics.106.061580","article-title":"Ubiquitin-like protein 5 positively regulates chaperone gene expression in the mitochondrial unfolded protein response","volume":"174","author":"Benedetti","year":"2006","journal-title":"Genetics"},{"issue":"7603","key":"2022112511292465200_dgac528-B45","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1038\/nature17989","article-title":"Maintenance and propagation of a deleterious mitochondrial genome by the mitochondrial unfolded protein response","volume":"533","author":"Lin","year":"2016","journal-title":"Nature"},{"issue":"2","key":"2022112511292465200_dgac528-B46","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/nrm.2017.110","article-title":"The mitochondrial UPR: mechanisms, physiological functions and implications in ageing","volume":"19","author":"Shpilka","year":"2018","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"4","key":"2022112511292465200_dgac528-B47","doi-asserted-by":"crossref","first-page":"e12784","DOI":"10.1111\/acel.12784","article-title":"Mitochondrial unfolded protein response gene clpp is required to maintain ovarian follicular reserve during aging, for oocyte competence, and development of pre-implantation embryos","volume":"17","author":"Wang","year":"2018","journal-title":"Aging Cell"},{"issue":"4","key":"2022112511292465200_dgac528-B48","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"},{"issue":"12","key":"2022112511292465200_dgac528-B49","doi-asserted-by":"crossref","first-page":"7966","DOI":"10.1002\/jcp.30468","article-title":"Oxidative stress in oocyte aging and female reproduction","volume":"236","author":"Wang","year":"2021","journal-title":"J Cell Physiol"},{"issue":"12","key":"2022112511292465200_dgac528-B50","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.15252\/emmm.201505079","article-title":"Mitochondrial disease in adults: what's Old and what's New?","volume":"7","author":"Chinnery","year":"2015","journal-title":"EMBO Mol Med"},{"issue":"10","key":"2022112511292465200_dgac528-B51","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1007\/s00439-020-02176-w","article-title":"Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance\/translation disorders (LARS2, TFAM)","volume":"139","author":"Tucker","year":"2020","journal-title":"Hum Genet"},{"issue":"12","key":"2022112511292465200_dgac528-B52","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1007\/s00439-021-02380-2","article-title":"A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss","volume":"140","author":"Ullah","year":"2021","journal-title":"Hum Genet"},{"issue":"4","key":"2022112511292465200_dgac528-B53","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/j.ajhg.2013.03.007","article-title":"Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome","volume":"92","author":"Pierce","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"16","key":"2022112511292465200_dgac528-B54","doi-asserted-by":"crossref","first-page":"6543","DOI":"10.1073\/pnas.1103471108","article-title":"Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome","volume":"108","author":"Pierce","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"13","key":"2022112511292465200_dgac528-B55","doi-asserted-by":"crossref","first-page":"2541","DOI":"10.1093\/hmg\/ddx152","article-title":"A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome","volume":"26","author":"Chatzispyrou","year":"2017","journal-title":"Hum Mol Genet"},{"issue":"22","key":"2022112511292465200_dgac528-B56","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1212\/WNL.0000000000001036","article-title":"Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features","volume":"83","author":"Morino","year":"2014","journal-title":"Neurology"},{"issue":"23","key":"2022112511292465200_dgac528-B57","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1212\/WNL.0000000000000497","article-title":"Novel (ovario) leukodystrophy related to AARS2 mutations","volume":"82","author":"Dallabona","year":"2014","journal-title":"Neurology"},{"issue":"11","key":"2022112511292465200_dgac528-B58","doi-asserted-by":"crossref","first-page":"e1225","DOI":"10.1212\/WNL.0000000000007098","article-title":"Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy","volume":"92","author":"van der Knaap","year":"2019","journal-title":"Neurology"},{"issue":"9437","key":"2022112511292465200_dgac528-B59","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/S0140-6736(04)16983-3","article-title":"Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study","volume":"364","author":"Luoma","year":"2004","journal-title":"Lancet"},{"issue":"10","key":"2022112511292465200_dgac528-B60","doi-asserted-by":"crossref","first-page":"2467","DOI":"10.1093\/humrep\/del076","article-title":"Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma","volume":"21","author":"Pagnamenta","year":"2006","journal-title":"Hum Reprod"},{"issue":"1-2","key":"2022112511292465200_dgac528-B61","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.ymgme.2016.07.001","article-title":"Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion","volume":"119","author":"Stiles","year":"2016","journal-title":"Mol Genet Metab"},{"issue":"5","key":"2022112511292465200_dgac528-B62","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.ajhg.2011.04.006","article-title":"Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy","volume":"88","author":"Gotz","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"2","key":"2022112511292465200_dgac528-B63","first-page":"100079","article-title":"Rare coding variants in DNA damage repair genes associated with timing of natural menopause","volume":"3","author":"Ward","year":"2022","journal-title":"HGG Adv"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgac528\/46346486\/dgac528.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/107\/12\/3328\/47260280\/dgac528.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/107\/12\/3328\/47260280\/dgac528.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,25]],"date-time":"2022-11-25T07:24:06Z","timestamp":1669361046000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/107\/12\/3328\/6694194"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,9]]},"references-count":63,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,9,9]]},"published-print":{"date-parts":[[2022,11,25]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgac528","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,12,1]]},"published":{"date-parts":[[2022,9,9]]}}}