{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T12:22:36Z","timestamp":1793276556455,"version":"4.5.0"},"reference-count":53,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T00:00:00Z","timestamp":1495756800000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Health and Medical Research Council (NHMRC)","award":["1068409"],"award-info":[{"award-number":["1068409"]}]},{"name":"National Health and Medical Research Council (NHMRC)","award":["1107094"],"award-info":[{"award-number":["1107094"]}]},{"DOI":"10.13039\/100010846","name":"Australian Mitochondrial Disease Foundation","doi-asserted-by":"crossref","award":["1102896"],"award-info":[{"award-number":["1102896"]}],"id":[{"id":"10.13039\/100010846","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NHMRC Early Career Fellowship","award":["1054432"],"award-info":[{"award-number":["1054432"]}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"crossref","award":["DPM20121125550"],"award-info":[{"award-number":["DPM20121125550"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"crossref"}]},{"name":"CSBB","award":["853.00.130"],"award-info":[{"award-number":["853.00.130"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,6,1]]},"DOI":"10.1093\/brain\/awx094","type":"journal-article","created":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T07:38:48Z","timestamp":1490773128000},"page":"1595-1610","source":"Crossref","is-referenced-by-count":136,"title":["ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism"],"prefix":"10.1093","volume":"140","author":[{"given":"Radha","family":"Desai","sequence":"first","affiliation":[{"name":"MRC Laboratory, Mill Hill, London NW71AA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann E.","family":"Frazier","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute, Royal Children\u2019s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Durigon","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harshil","family":"Patel","sequence":"additional","affiliation":[{"name":"Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleck W.","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Dalla Rosa","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole J.","family":"Lake","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute, Royal Children\u2019s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison G.","family":"Compton","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute, Royal Children\u2019s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley S.","family":"Mountford","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute, Royal Children\u2019s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena J.","family":"Tucker","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute, Royal Children\u2019s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice L. R.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Jackson","sequence":"additional","affiliation":[{"name":"Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul","family":"Sesay","sequence":"additional","affiliation":[{"name":"Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Di Re","sequence":"additional","affiliation":[{"name":"Mitochondrial Biology Unit, Hills Road, Cambridge, CB2 0XY, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lambert P.","family":"van den Heuvel","sequence":"additional","affiliation":[{"name":"Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek","family":"Burke","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Francis","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Lunke","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne VIC 3052, Australia"},{"name":"Department of Pathology, University of Melbourne, Melbourne 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"McGillivray","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne VIC 3052, Australia"},{"name":"MRC Laboratory, Mill Hill, London NW71AA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Mandelstam","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute, Royal Children\u2019s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia"},{"name":"The Florey Institute of Neuroscience and Mental Health Melbourne, Australia"},{"name":"Departments of Radiology and Paediatrics, University of Melbourne, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Mochel","sequence":"additional","affiliation":[{"name":"AP-HP, Department of Genetics, GHU Piti\u00e9-Salp\u00eatri\u00e8re, Paris, F-75651 France"},{"name":"Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris, France"},{"name":"AP-HP, Service de Biochimie M\u00e9tabolique et Centre de G\u00e9n\u00e9tique mol\u00e9culaire et chromosomique, GHU Piti\u00e9-Salp\u00eatri\u00e8re, Paris, F-75651 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Jardel","sequence":"additional","affiliation":[{"name":"AP-HP, Service de Biochimie M\u00e9tabolique et Centre de G\u00e9n\u00e9tique mol\u00e9culaire et chromosomique, GHU Piti\u00e9-Salp\u00eatri\u00e8re, Paris, F-75651 France"},{"name":"Inserm U1016; CNRS UMR 8104; Universit\u00e9 Paris-Descartes-Paris 5; Institut Cochin, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"Turner","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Sydney Children\u2019s Hospital, Sydney, NSW, Australia"},{"name":"School of Women\u2019s and Children\u2019s Health, University of New South Wales, Kensington, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Ian Andrews","sequence":"additional","affiliation":[{"name":"School of Women\u2019s and Children\u2019s Health, University of New South Wales, Kensington, NSW, Australia"},{"name":"Department of Paediatric Neurology, Sydney Children\u2019s Hospital, Sydney, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Smeitink","sequence":"additional","affiliation":[{"name":"Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes N.","family":"Spelbrink","sequence":"additional","affiliation":[{"name":"Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon J.","family":"Heales","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London, UK"},{"name":"Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masakazu","family":"Kohda","sequence":"additional","affiliation":[{"name":"Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Ohtake","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Saitama Medical University, Moroyama-machi, Iruma-gun, Saitama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[{"name":"Department of Metabolism, Chiba Children\u2019s Hospital, Chiba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan"},{"name":"Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Lomb\u00e8s","sequence":"additional","affiliation":[{"name":"MRC Laboratory, Mill Hill, London NW71AA, UK"},{"name":"Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian J.","family":"Holt","sequence":"additional","affiliation":[{"name":"MRC Laboratory, Mill Hill, London NW71AA, UK"},{"name":"Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK"},{"name":"Biodonostia Health Research Institute, 20014 San Sebasti\u00e1n, Spain. IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Thorburn","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute, Royal Children\u2019s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia"},{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Spinazzola","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK"},{"name":"MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,5,24]]},"reference":[{"key":"key\n\t\t\t\t20180328140442_awx094-B1","doi-asserted-by":"crossref","first-page":"E4276","DOI":"10.1073\/pnas.1600537113","article-title":"Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria","volume":"113","author":"Akman","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20180328140442_awx094-B2","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1177\/0883073814539561","article-title":"Mitochondrial genetics and disease","volume":"29","author":"Area-Gomez","year":"2014","journal-title":"J Child Neurol"},{"key":"key\n\t\t\t\t20180328140442_awx094-B3","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.yexcr.2004.10.013","article-title":"Detection of mitochondrial DNA depletion in living human cells using PicoGreen staining","volume":"303","author":"Ashley","year":"2005","journal-title":"Exp Cell Res"},{"key":"key\n\t\t\t\t20180328140442_awx094-B4","doi-asserted-by":"crossref","first-page":"11863","DOI":"10.1073\/pnas.1301951110","article-title":"Dynamics of nucleoid structure regulated by mitochondrial fission contributes to cristae reformation and release of cytochrome c","volume":"110","author":"Ban-Ishihara","year":"2013","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20180328140442_awx094-B5","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1007\/s10545-011-9376-7","article-title":"Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion","volume":"34","author":"Biancheri","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"key\n\t\t\t\t20180328140442_awx094-B6","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1002\/humu.21581","article-title":"Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays","volume":"32","author":"Bruno","year":"2011","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180328140442_awx094-B7","doi-asserted-by":"crossref","first-page":"118ra110","DOI":"10.1126\/scitranslmed.3003310","article-title":"Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing","volume":"4","author":"Calvo","year":"2012","journal-title":"Sci Transl Med"},{"key":"key\n\t\t\t\t20180328140442_awx094-B8","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1101\/gr.127738.111","article-title":"Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease","volume":"22","author":"Casola","year":"2012","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180328140442_awx094-B9","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddx042","article-title":"ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia","author":"Cooper","year":"2017","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180328140442_awx094-B10","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1212\/01.WNL.0000069460.53438.38","article-title":"Single section Western blot: improving the molecular diagnosis of the muscular dystrophies","volume":"61","author":"Cooper","year":"2003","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180328140442_awx094-B11","doi-asserted-by":"crossref","first-page":"e1005779","DOI":"10.1371\/journal.pgen.1005779","article-title":"MPV17 loss causes deoxynucleotide insufficiency and slow DNA replication in mitochondria","volume":"12","author":"Dalla Rosa","year":"2016","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20180328140442_awx094-B12","doi-asserted-by":"crossref","first-page":"8500","DOI":"10.1093\/nar\/gku513","article-title":"MPV17L2 is required for ribosome assembly in mitochondria","volume":"42","author":"Dalla Rosa","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180328140442_awx094-B13","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1055\/s-2007-973467","article-title":"Pontocerebellar hypoplasia associated with respiratory-chain defects","volume":"30","author":"de Koning","year":"1999","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t20180328140442_awx094-B14","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180328140442_awx094-B15","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1186\/s12864-015-1681-3","article-title":"Interlocus gene conversion explains at least 2.7% of single nucleotide variants in human segmental duplications","volume":"16","author":"Dumont","year":"2015","journal-title":"BMC Genomics"},{"key":"key\n\t\t\t\t20180328140442_awx094-B16","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1086\/521227","article-title":"Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia","volume":"81","author":"Edvardson","year":"2007","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140442_awx094-B17","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/978-1-61779-504-6_4","article-title":"Biochemical analyses of the electron transport chain complexes by spectrophotometry","volume":"837","author":"Frazier","year":"2012","journal-title":"Methods Mol Biol"},{"key":"key\n\t\t\t\t20180328140442_awx094-B18","doi-asserted-by":"crossref","first-page":"15292","DOI":"10.1038\/srep15292","article-title":"Human mitochondrial DNA-protein complexes attach to a cholesterol-rich membrane structure","volume":"5","author":"Gerhold","year":"2015","journal-title":"Sci Rep"},{"key":"key\n\t\t\t\t20180328140442_awx094-B19","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1161\/01.CIR.97.10.946","article-title":"Cholesterol reduction yields clinical benefit: impact of statin trials","volume":"97","author":"Gould","year":"1998","journal-title":"Circulation"},{"key":"key\n\t\t\t\t20180328140442_awx094-B20","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ajhg.2016.08.007","article-title":"Recurrent De Novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes","volume":"99","author":"Harel","year":"2016","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140442_awx094-B21","doi-asserted-by":"crossref","first-page":"6109","DOI":"10.1093\/nar\/gks266","article-title":"Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis","volume":"40","author":"He","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180328140442_awx094-B22","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1083\/jcb.200609158","article-title":"The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization","volume":"176","author":"He","year":"2007","journal-title":"J Cell Biol"},{"key":"key\n\t\t\t\t20180328140442_awx094-B23","doi-asserted-by":"crossref","first-page":"e7644","DOI":"10.1371\/journal.pone.0007644","article-title":"C. elegans ATAD-3 is essential for mitochondrial activity and development","volume":"4","author":"Hoffmann","year":"2009","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20180328140442_awx094-B24","doi-asserted-by":"crossref","first-page":"E474","DOI":"10.1152\/ajpendo.90369.2008","article-title":"Leptin modulates ACAT1 expression and cholesterol efflux from human macrophages","volume":"297","author":"Hongo","year":"2009","journal-title":"Am J Physiol Endocrinol Metab"},{"key":"key\n\t\t\t\t20180328140442_awx094-B25","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1172\/JCI0215593","article-title":"SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver","volume":"109","author":"Horton","year":"2002","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t20180328140442_awx094-B26","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1042\/bse0570043","article-title":"Cholesterol trafficking and distribution","volume":"57","author":"Iaea","year":"2015","journal-title":"Essays Biochem"},{"key":"key\n\t\t\t\t20180328140442_awx094-B27","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1210\/en.2014-1503","article-title":"Mitochondria-associated membrane formation in hormone-stimulated Leydig cell steroidogenesis: role of ATAD3","volume":"156","author":"Issop","year":"2015","journal-title":"Endocrinology"},{"key":"key\n\t\t\t\t20180328140442_awx094-B28","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/nrneurol.2011.132","article-title":"Cholesterol metabolism in Huntington disease","volume":"7","author":"Karasinska","year":"2011","journal-title":"Nat Rev Neurol"},{"key":"key\n\t\t\t\t20180328140442_awx094-B29","doi-asserted-by":"crossref","first-page":"D493","DOI":"10.1093\/nar\/gkh103","article-title":"The UCSC table browser data retrieval tool","volume":"32","author":"Karolchik","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180328140442_awx094-B30","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1042\/BJ20120545","article-title":"A key regulator of cholesterol homoeostasis, SREBP-2, can be targeted in prostate cancer cells with natural products","volume":"446","author":"Krycer","year":"2012","journal-title":"Biochem J"},{"key":"key\n\t\t\t\t20180328140442_awx094-B31","doi-asserted-by":"crossref","first-page":"13534","DOI":"10.1073\/pnas.1109263108","article-title":"Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA","volume":"108","author":"Kukat","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20180328140442_awx094-B32","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1093\/hmg\/7.6.981","article-title":"Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency","volume":"7","author":"Lamande","year":"1998","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180328140442_awx094-B33","doi-asserted-by":"crossref","first-page":"aaf5549","DOI":"10.1126\/science.aaf5549","article-title":"ER-mitochondria contacts couple mtDNA synthesis with mitochondrial division in human cells","volume":"353","author":"Lewis","year":"2016","journal-title":"Science"},{"key":"key\n\t\t\t\t20180328140442_awx094-B34","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1186\/1471-2105-12-323","article-title":"RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome","volume":"12","author":"Li","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"key\n\t\t\t\t20180328140442_awx094-B36","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol"},{"key":"key\n\t\t\t\t20180328140442_awx094-B37","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.mito.2009.05.001","article-title":"Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis","volume":"9","author":"Medja","year":"2009","journal-title":"Mitochondrion"},{"key":"key\n\t\t\t\t20180328140442_awx094-B38","doi-asserted-by":"crossref","first-page":"e00422","DOI":"10.7554\/eLife.00422","article-title":"ER-associated mitochondrial division links the distribution of mitochondria and mitochondrial DNA in yeast","volume":"2","author":"Murley","year":"2013","journal-title":"Elife"},{"key":"key\n\t\t\t\t20180328140442_awx094-B39","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1093\/brain\/awq287","article-title":"Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia","volume":"134","author":"Namavar","year":"2011","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180328140442_awx094-B40","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"},{"key":"key\n\t\t\t\t20180328140442_awx094-B41","doi-asserted-by":"crossref","first-page":"2188","DOI":"10.1002\/hep.25961","article-title":"Deficiency of carboxylesterase 1\/esterase-x results in obesity, hepatic steatosis, and hyperlipidemia","volume":"56","author":"Quiroga","year":"2012","journal-title":"Hepatology"},{"key":"key\n\t\t\t\t20180328140442_awx094-B35","author":"R Core Team","year":"2015"},{"key":"key\n\t\t\t\t20180328140442_awx094-B43","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1159\/000112179","article-title":"Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport","volume":"13","author":"Roff","year":"1991","journal-title":"Dev Neurosci"},{"key":"key\n\t\t\t\t20180328140442_awx094-B44","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1210\/me.2012-1159","article-title":"Identification of a dynamic mitochondrial protein complex driving cholesterol import, trafficking, and metabolism to steroid hormones","volume":"26","author":"Rone","year":"2012","journal-title":"Mol Endocrinol"},{"key":"key\n\t\t\t\t20180328140442_awx094-B45","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1021\/tx500221a","article-title":"Effects of toxicologically relevant xenobiotics and the lipid-derived electrophile 4-hydroxynonenal on macrophage cholesterol efflux: silencing carboxylesterase 1 has paradoxical effects on cholesterol uptake and efflux","volume":"27","author":"Ross","year":"2014","journal-title":"Chem Res Toxicol"},{"key":"key\n\t\t\t\t20180328140442_awx094-B46","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/S0304-3940(02)00077-0","article-title":"Dendritic spine formation in response to progesterone synthesized de novo in the developing Purkinje cell in rats","volume":"322","author":"Sakamoto","year":"2002","journal-title":"Neurosci Lett"},{"issue":"Pt B","key":"key\n\t\t\t\t20180328140442_awx094-B47","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.brainres.2016.03.035","article-title":"Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease","volume":"1649","author":"Schultz","year":"2016","journal-title":"Brain Res"},{"key":"key\n\t\t\t\t20180328140442_awx094-B48","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1023\/A:1020932130753","article-title":"U18666A inhibits intracellular cholesterol transport and neurotransmitter release in human neuroblastoma cells","volume":"24","author":"Sparrow","year":"1999","journal-title":"Neurochem Res"},{"key":"key\n\t\t\t\t20180328140442_awx094-B49","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/iub.282","article-title":"Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges","volume":"62","author":"Spelbrink","year":"2010","journal-title":"IUBMB Life"},{"key":"key\n\t\t\t\t20180328140442_awx094-B50","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20180328140442_awx094-B51","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0006-8993(95)00116-8","article-title":"Avian neurosteroids. I. Pregnenolone biosynthesis in the quail brain","volume":"678","author":"Tsutsui","year":"1995","journal-title":"Brain Res"},{"key":"key\n\t\t\t\t20180328140442_awx094-B52","doi-asserted-by":"crossref","first-page":"e1004034","DOI":"10.1371\/journal.pgen.1004034","article-title":"Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression","volume":"9","author":"Tucker","year":"2013","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20180328140442_awx094-B53","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/0006-8993(95)00117-9","article-title":"Avian neurosteroids. II. Localization of a cytochrome P450scc-like substance in the quail brain","volume":"678","author":"Usui","year":"1995","journal-title":"Brain Res"},{"key":"key\n\t\t\t\t20180328140442_awx094-B54","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.bbrc.2015.09.143","article-title":"Caenorhabditis elegans ATAD-3 modulates mitochondrial iron and heme homeostasis","volume":"467","author":"van den Ecker","year":"2015","journal-title":"Biochem Biophys Res Commun"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/140\/6\/1595\/24175170\/awx094.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,23]],"date-time":"2024-06-23T05:34:31Z","timestamp":1719120871000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/140\/6\/1595\/3855032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,24]]},"references-count":53,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,5,24]]},"published-print":{"date-parts":[[2017,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awx094","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,6]]},"published":{"date-parts":[[2017,5,24]]}}}