{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T14:16:04Z","timestamp":1793369764182,"version":"4.5.0"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T00:00:00Z","timestamp":1539734400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Research Council Consolidator Award \u2018PAROSIN\u2019","award":["311394"],"award-info":[{"award-number":["311394"]}]},{"name":"Medical Research Council Programme Grant","award":["MR\/P502005\/1"],"award-info":[{"award-number":["MR\/P502005\/1"]}]},{"DOI":"10.13039\/501100004702","name":"University of Genoa","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004702","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007388","name":"Compagnia di San Paolo","doi-asserted-by":"publisher","award":["2015.0546"],"award-info":[{"award-number":["2015.0546"]}],"id":[{"id":"10.13039\/100007388","id-type":"DOI","asserted-by":"publisher"}]},{"name":"EU FP7 Integrating Project \u2018Desire\u2019","award":["602531"],"award-info":[{"award-number":["602531"]}]},{"DOI":"10.13039\/501100007496","name":"Fondazione CARIGE","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007496","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,15]]},"DOI":"10.1093\/hmg\/ddy370","type":"journal-article","created":{"date-parts":[[2018,10,16]],"date-time":"2018-10-16T15:15:18Z","timestamp":1539702918000},"page":"584-597","source":"Crossref","is-referenced-by-count":51,"title":["The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons"],"prefix":"10.1093","volume":"28","author":[{"given":"Matt\u00e9a J","family":"Finelli","sequence":"first","affiliation":[{"name":"Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Aprile","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Genoa, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Castroflorio","sequence":"additional","affiliation":[{"name":"Center of Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 9, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Jeans","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Moschetta","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Genoa, Genoa, Italy"},{"name":"Center of Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 9, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Chessum","sequence":"additional","affiliation":[{"name":"MRC Harwell Institute, Harwell, Oxfordshire, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo T","family":"Degiacomi","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Durham University, South Road, Durham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Grasegger","sequence":"additional","affiliation":[{"name":"Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Lupien-Meilleur","sequence":"additional","affiliation":[{"name":"CHU Ste-Justine, Departments of Neurosciences and Pediatrics, Universit\u00e9 de Montr\u00e9al, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1632-9137","authenticated-orcid":false,"given":"Andrew","family":"Bassett","sequence":"additional","affiliation":[{"name":"Cellular Operations, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Rossignol","sequence":"additional","affiliation":[{"name":"CHU Ste-Justine, Departments of Neurosciences and Pediatrics, Universit\u00e9 de Montr\u00e9al, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe M","family":"Campeau","sequence":"additional","affiliation":[{"name":"CHU Ste-Justine, Departments of Neurosciences and Pediatrics, Universit\u00e9 de Montr\u00e9al, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R","family":"Bowl","sequence":"additional","affiliation":[{"name":"MRC Harwell Institute, Harwell, Oxfordshire, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Benfenati","sequence":"additional","affiliation":[{"name":"Center of Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 9, Genoa, Italy"},{"name":"IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Fassio","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Genoa, Genoa, Italy"},{"name":"IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter L","family":"Oliver","sequence":"additional","affiliation":[{"name":"Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, UK"},{"name":"MRC Harwell Institute, Harwell, Oxfordshire, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,10,17]]},"reference":[{"key":"key\n\t\t\t\t2019020402594131300_ref1","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1111\/jnc.13713","article-title":"Synaptopathies: synaptic dysfunction in neurological disorders\u2014a review from students to students","volume":"138","author":"Lepeta","year":"2016","journal-title":"J. Neurochem."},{"key":"key\n\t\t\t\t2019020402594131300_ref2","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1042\/BST0380443","article-title":"Synaptopathy: dysfunction of synaptic function?","volume":"38","author":"Brose","year":"2010","journal-title":"Biochem. Soc. Trans."},{"key":"key\n\t\t\t\t2019020402594131300_ref3","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1038\/ng.150","article-title":"De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy","volume":"40","author":"Saitsu","year":"2008","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t2019020402594131300_ref4","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1212\/WNL.0000000000002457","article-title":"STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy","volume":"86","author":"Stamberger","year":"2016","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2019020402594131300_ref5","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jmg.2003.013680","article-title":"Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy","volume":"41","author":"Garcia","year":"2004","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t2019020402594131300_ref6","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1093\/hmg\/ddr122","article-title":"SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function","volume":"20","author":"Fassio","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t2019020402594131300_ref7","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ejpn.2015.12.014","article-title":"Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy","volume":"20","author":"Vlaskamp","year":"2016","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"key\n\t\t\t\t2019020402594131300_ref8","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1038\/ng.3130","article-title":"Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes","volume":"46","author":"Schubert","year":"2014","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t2019020402594131300_ref9","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1212\/WNL.0000000000001079","article-title":"Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability","volume":"83","author":"Shen","year":"2014","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2019020402594131300_ref10","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.pnpbp.2017.12.001","article-title":"Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations","volume":"84","author":"Luo","year":"2018","journal-title":"Prog. Neuropsychopharmacol. Biol. Psychiatry"},{"key":"key\n\t\t\t\t2019020402594131300_ref11","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1111\/nan.12451","article-title":"Review: animal models of acquired epilepsy: insights into mechanisms of human epileptogenesis","volume":"44","author":"Becker","year":"2018","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"key\n\t\t\t\t2019020402594131300_ref12","author":"Mucha","year":"2017","journal-title":"GeneReviews"},{"key":"key\n\t\t\t\t2019020402594131300_ref13","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1212\/WNL.0000000000002807","article-title":"TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features","volume":"87","author":"Balestrini","year":"2016","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2019020402594131300_ref14","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.cell.2011.02.039","article-title":"Loss of Skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins","volume":"145","author":"Uytterhoeven","year":"2011","journal-title":"Cell"},{"key":"key\n\t\t\t\t2019020402594131300_ref15","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1083\/jcb.201406026","article-title":"Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24\/sky-induced neurodegeneration","volume":"207","author":"Fernandes","year":"2014","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t2019020402594131300_ref16","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1038\/nsmb.3297","article-title":"Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function","volume":"23","author":"Fischer","year":"2016","journal-title":"Nat. Struct. Mol. Biol."},{"key":"key\n\t\t\t\t2019020402594131300_ref17","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1073\/pnas.1316294111","article-title":"TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway","volume":"111","author":"Falace","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"key":"key\n\t\t\t\t2019020402594131300_ref18","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.ajhg.2010.07.020","article-title":"TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy","volume":"87","author":"Falace","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2019020402594131300_ref19","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.ajhg.2010.08.001","article-title":"A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24","volume":"87","author":"Corbett","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2019020402594131300_ref20","doi-asserted-by":"crossref","first-page":"2751","DOI":"10.1074\/jbc.M115.685222","article-title":"The evolutionarily conserved Tre2\/Bub2\/Cdc16 (TBC), lysin motif (LYSM), domain catalytic (TLDc) domain is neuroprotective against oxidative stress","volume":"291","author":"Finelli","year":"2016","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t2019020402594131300_ref21","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/s00335-017-9706-7","article-title":"TLDc proteins: new players in the oxidative stress response and neurological disease","volume":"28","author":"Finelli","year":"2017","journal-title":"Mamm. Genome"},{"key":"key\n\t\t\t\t2019020402594131300_ref22","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S1474-4422(13)70265-5","article-title":"The genetic basis of DOORS syndrome: an exome-sequencing study","volume":"13","author":"Campeau","year":"2014","journal-title":"Lancet Neurol."},{"key":"key\n\t\t\t\t2019020402594131300_ref23","doi-asserted-by":"crossref","first-page":"3207","DOI":"10.1002\/ajmg.a.37933","article-title":"Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations","volume":"170","author":"Lozano","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t2019020402594131300_ref24","doi-asserted-by":"crossref","first-page":"553","DOI":"10.12688\/f1000research.10588.1","article-title":"Case report: novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability","volume":"6","author":"Banuelos","year":"2017","journal-title":"F1000Res."},{"key":"key\n\t\t\t\t2019020402594131300_ref25","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.ajhg.2013.12.004","article-title":"Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86","volume":"94","author":"Rehman","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2019020402594131300_ref26","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.ejpn.2014.12.011","article-title":"Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations","volume":"19","author":"Stra\u017ei\u0161ar","year":"2015","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"key\n\t\t\t\t2019020402594131300_ref27","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.c.31412","article-title":"DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome","volume":"166","author":"Campeau","year":"2014","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"key\n\t\t\t\t2019020402594131300_ref28","article-title":"A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay","author":"Mucha","year":"2018","journal-title":"Genet. Med."},{"key":"key\n\t\t\t\t2019020402594131300_ref29","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/humu.22558","article-title":"A dominant mutation in the stereocilia-expressing gene tbc1d24 is a probable cause for nonsyndromic hearing impairment","volume":"35","author":"Zhang","year":"2014","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t2019020402594131300_ref30","doi-asserted-by":"crossref","first-page":"35456","DOI":"10.1038\/srep35456","article-title":"Dynamics of the mouse brain cortical synaptic proteome during postnatal brain development","volume":"6","author":"Gonzalez-Lozano","year":"2016","journal-title":"Sci. Rep."},{"key":"key\n\t\t\t\t2019020402594131300_ref31","doi-asserted-by":"crossref","first-page":"12107","DOI":"10.1038\/s41598-017-11690-3","article-title":"Correlation profiling of brain sub-cellular proteomes reveals co-assembly of synaptic proteins and subcellular distribution","volume":"7","author":"Pandya","year":"2017","journal-title":"Sci. Rep."},{"key":"key\n\t\t\t\t2019020402594131300_ref32","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.10116","article-title":"Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse","volume":"5","author":"Tagliatti","year":"2016","journal-title":"eLife"},{"key":"key\n\t\t\t\t2019020402594131300_ref33","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1136\/jmedgenet-2012-101313","article-title":"TBC1D24 truncating mutation resulting in severe neurodegeneration","volume":"50","author":"Guven","year":"2013","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t2019020402594131300_ref34","doi-asserted-by":"crossref","first-page":"293689","DOI":"10.1155\/2014\/293689","article-title":"Oxidative stress associated with neuronal apoptosis in experimental models of epilepsy","volume":"2014","author":"M\u00e9ndez-Armenta","year":"2014","journal-title":"Oxid. Med. Cell. Longev."},{"key":"key\n\t\t\t\t2019020402594131300_ref35","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1523\/JNEUROSCI.2658-17.2017","article-title":"ELMOD1 stimulates ARF6-GTP hydrolysis to stabilize apical structures in developing vestibular hair cells","volume":"38","author":"Krey","year":"2018","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t2019020402594131300_ref36","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/s12264-017-0201-7","article-title":"The role of synapsins in neurological disorders","volume":"34","author":"Mirza","year":"2018","journal-title":"Neurosci. Bull."},{"key":"key\n\t\t\t\t2019020402594131300_ref37","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.tins.2016.08.005","article-title":"PRRT2: from paroxysmal disorders to regulation of synaptic function","volume":"39","author":"Valtorta","year":"2016","journal-title":"Trends Neurosci."},{"key":"key\n\t\t\t\t2019020402594131300_ref38","doi-asserted-by":"crossref","first-page":"14819","DOI":"10.1038\/ncomms14819","article-title":"Retrograde transport of TrkB-containing autophagosomes via the adaptor AP-2 mediates neuronal complexity and prevents neurodegeneration","volume":"8","author":"Kononenko","year":"2017","journal-title":"Nat. Commun."},{"key":"key\n\t\t\t\t2019020402594131300_ref39","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/nature10163","article-title":"A conditional knockout resource for the genome\u2013wide study of mouse gene function","volume":"474","author":"Skarnes","year":"2011","journal-title":"Nature"},{"key":"key\n\t\t\t\t2019020402594131300_ref40","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.ymeth.2014.02.019","article-title":"CRISPR\/Cas9 mediated genome engineering in Drosophila","volume":"69","author":"Bassett","year":"2014","journal-title":"Methods"},{"key":"key\n\t\t\t\t2019020402594131300_ref41","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/msb.2011.75","article-title":"Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega","volume":"7","author":"Sievers","year":"2011","journal-title":"Mol. Syst. Biol."},{"key":"key\n\t\t\t\t2019020402594131300_ref42","doi-asserted-by":"crossref","first-page":"W197","DOI":"10.1093\/nar\/gkn238","article-title":"The Jpred 3 secondary structure prediction server","volume":"36","author":"Cole","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t2019020402594131300_ref43","doi-asserted-by":"crossref","first-page":"3696","DOI":"10.1021\/acs.jctc.5b00255","article-title":"ff14SB: improving the accuracy of protein side chain and backbone parameters from ff99SB","volume":"11","author":"Maier","year":"2015","journal-title":"J. Chem. Theory Comput."},{"key":"key\n\t\t\t\t2019020402594131300_ref44","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1002\/jcc.20289","article-title":"Scalable molecular dynamics with NAMD","volume":"26","author":"Phillips","year":"2005","journal-title":"J. Comput. Chem."},{"key":"key\n\t\t\t\t2019020402594131300_ref45","doi-asserted-by":"crossref","first-page":"2577","DOI":"10.1002\/bip.360221211","article-title":"Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features","volume":"22","author":"Kabsch","year":"1983","journal-title":"Biopolymers"},{"key":"key\n\t\t\t\t2019020402594131300_ref46","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/0263-7855(96)00018-5","article-title":"VMD: visual molecular dynamics","volume":"14","author":"Humphrey","year":"1996","journal-title":"J. Mol. Graph."},{"key":"key\n\t\t\t\t2019020402594131300_ref47","doi-asserted-by":"crossref","first-page":"12444","DOI":"10.1038\/ncomms12444","article-title":"Novel gene function revealed by mouse mutagenesis screens for models of age-related disease","volume":"7","author":"Potter","year":"2016","journal-title":"Nat. Commun."},{"key":"key\n\t\t\t\t2019020402594131300_ref48","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.neuron.2008.12.024","article-title":"Two pathways of synaptic vesicle retrieval revealed by single vesicle imaging","volume":"61","author":"Zhu","year":"2009","journal-title":"Neuron"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/4\/584\/27636589\/ddy370.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,26]],"date-time":"2019-10-26T18:28:14Z","timestamp":1572114494000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/28\/4\/584\/5134216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,17]]},"references-count":48,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2018,10,17]]},"published-print":{"date-parts":[[2019,2,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddy370","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,2,15]]},"published":{"date-parts":[[2018,10,17]]}}}