{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T02:19:49Z","timestamp":1788574789987,"version":"build-2803163510"},"reference-count":46,"publisher":"Public Library of Science (PLoS)","issue":"4","license":[{"start":{"date-parts":[[2017,4,4]],"date-time":"2017-04-04T00:00:00Z","timestamp":1491264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1006656","type":"journal-article","created":{"date-parts":[[2017,4,4]],"date-time":"2017-04-04T22:29:16Z","timestamp":1491344956000},"page":"e1006656","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":41,"title":["Novel insights into SLC25A46-related pathologies in a genetic mouse model"],"prefix":"10.1371","volume":"13","author":[{"given":"Maria Eirini","family":"Terzenidou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aikaterini","family":"Segklia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshimi","family":"Kano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florentia","family":"Papastefanaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Karakostas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8417-1023","authenticated-orcid":true,"given":"Maria","family":"Charalambous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fotis","family":"Ioakeimidis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Papadaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismini","family":"Kloukina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarita","family":"Chrysanthou-Piterou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Samiotaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Panayotou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Matsas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0004-5121","authenticated-orcid":true,"given":"Eleni","family":"Douni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2017,4,4]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.tibs.2016.01.001","article-title":"Mitochondrial Cristae: Where Beauty Meets Functionality","volume":"41","author":"S Cogliati","year":"2016","journal-title":"Trends Biochem Sci"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/978-1-4899-1775-1_5","article-title":"VDAC, a channel in the outer mitochondrial membrane","volume":"4","author":"M Colombini","year":"1996","journal-title":"Ion Channels"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/S0955-0674(02)00355-1","article-title":"Mitochondrial protein import: two membranes, three translocases","volume":"14","author":"N Pfanner","year":"2002","journal-title":"Curr Opin Cell Biol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A","volume":"36","author":"S Zuchner","year":"2004","journal-title":"Nat Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/79944","article-title":"OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28","volume":"26","author":"C Alexander","year":"2000","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","article-title":"Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy","volume":"26","author":"C Delettre","year":"2000","journal-title":"Nat Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"e982378","DOI":"10.4161\/23723556.2014.982378","article-title":"OPA1 and mitochondrial solute carriers in bioenergetic metabolism","volume":"2","author":"M Germain","year":"2015","journal-title":"Mol Cell Oncol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/j.mam.2012.05.005","article-title":"The mitochondrial transporter family SLC25: identification, properties and physiopathology","volume":"34","author":"F Palmieri","year":"2013","journal-title":"Mol Aspects Med"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"2617","DOI":"10.1073\/pnas.0509994103","article-title":"Mitochondrial carriers in the cytoplasmic state have a common substrate binding site","volume":"103","author":"AJ Robinson","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1016\/j.bbabio.2006.03.021","article-title":"The conserved substrate binding site of mitochondrial carriers","volume":"1757","author":"ER Kunji","year":"2006","journal-title":"Biochim Biophys Acta"},{"key":"ref11","article-title":"Discoveries, metabolic roles and diseases of mitochondrial carriers: A review","author":"F Palmieri","year":"2016","journal-title":"Biochim Biophys Acta"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1038\/ng.3354","article-title":"Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder","volume":"47","author":"AJ Abrams","year":"2015","journal-title":"Nat Genet"},{"key":"ref13","article-title":"Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder","author":"M Nguyen","year":"2016","journal-title":"Clin Genet"},{"key":"ref14","article-title":"SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome","author":"A Janer","year":"2016","journal-title":"EMBO Mol Med"},{"key":"ref15","article-title":"SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy","author":"G Charlesworth","year":"2016","journal-title":"Mov Disord"},{"key":"ref16","article-title":"Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia","author":"J Wan","year":"2016","journal-title":"Brain"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1093\/hmg\/ddr510","article-title":"A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF","volume":"21","author":"E Douni","year":"2012","journal-title":"Hum Mol Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"e104237","DOI":"10.1371\/journal.pone.0104237","article-title":"A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice","volume":"9","author":"F Ioakeimidis","year":"2014","journal-title":"PLoS One"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/0092-8674(92)90029-C","article-title":"RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement","volume":"68","author":"Y Shinkai","year":"1992","journal-title":"Cell"},{"key":"ref20","first-page":"185","article-title":"NMD: multitasking between mRNA surveillance and modulation of gene expression","volume":"62","author":"G Neu-Yilik","year":"2008","journal-title":"Adv Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S0166-2236(98)01313-7","article-title":"The cells and molecules that make a cerebellum","volume":"21","author":"D Goldowitz","year":"1998","journal-title":"Trends Neurosci"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s00429-011-0339-4","article-title":"Parasagittal compartmentation of cerebellar mossy fibers as revealed by the patterned expression of vesicular glutamate transporters VGLUT1 and VGLUT2","volume":"217","author":"SA Gebre","year":"2012","journal-title":"Brain Struct Funct"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/nrn1646","article-title":"Anatomical and physiological foundations of cerebellar information processing","volume":"6","author":"R Apps","year":"2005","journal-title":"Nat Rev Neurosci"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"4815","DOI":"10.1242\/dev.02664","article-title":"Requirement for Bhlhb5 in the specification of amacrine and cone bipolar subtypes in mouse retina","volume":"133","author":"L Feng","year":"2006","journal-title":"Development"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/brain\/awr290","article-title":"Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy","volume":"135","author":"A Bouaita","year":"2012","journal-title":"Brain"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1038\/nrn1253","article-title":"The local differentiation of myelinated axons at nodes of Ranvier","volume":"4","author":"S Poliak","year":"2003","journal-title":"Nat Rev Neurosci"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/s00401-014-1305-z","article-title":"The node of Ranvier in CNS pathology","volume":"128","author":"IL Arancibia-Carcamo","year":"2014","journal-title":"Acta Neuropathol"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.tins.2012.04.005","article-title":"Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction","volume":"35","author":"L Shi","year":"2012","journal-title":"Trends Neurosci"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1146\/annurev.neuro.22.1.389","article-title":"Development of the vertebrate neuromuscular junction","volume":"22","author":"JR Sanes","year":"1999","journal-title":"Annu Rev Neurosci"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1016\/j.neuron.2012.04.017","article-title":"Pervasive synaptic branch removal in the mammalian neuromuscular system at birth","volume":"74","author":"JC Tapia","year":"2012","journal-title":"Neuron"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"3663","DOI":"10.1523\/JNEUROSCI.20-10-03663.2000","article-title":"From plaque to pretzel: fold formation and acetylcholine receptor loss at the developing neuromuscular junction","volume":"20","author":"MJ Marques","year":"2000","journal-title":"J Neurosci"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"2639","DOI":"10.1093\/hmg\/ddt659","article-title":"Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice","volume":"23","author":"JN Sleigh","year":"2014","journal-title":"Hum Mol Genet"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.2169\/internalmedicine.31.1267","article-title":"Charcot-Marie-Tooth disease with diaphragmatic weakness","volume":"31","author":"S Osanai","year":"1992","journal-title":"Intern Med"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/78146","article-title":"Genome-wide, large-scale production of mutant mice by ENU mutagenesis","volume":"25","author":"MH Hrabe de Angelis","year":"2000","journal-title":"Nat Genet"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1146\/annurev.nutr.26.061505.111156","article-title":"Choline: critical role during fetal development and dietary requirements in adults","volume":"26","author":"SH Zeisel","year":"2006","journal-title":"Annu Rev Nutr"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1093\/bioinformatics\/btg112","article-title":"R\/qtl: QTL mapping in experimental crosses","volume":"19","author":"KW Broman","year":"2003","journal-title":"Bioinformatics"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1128\/MCB.7.8.2745","article-title":"High-efficiency transformation of mammalian cells by plasmid DNA","volume":"7","author":"C Chen","year":"1987","journal-title":"Mol Cell Biol"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1002\/jbmr.2112","article-title":"Novel genetic models of osteoporosis by overexpression of human RANKL in transgenic mice","volume":"29","author":"V Rinotas","year":"2014","journal-title":"J Bone Miner Res"},{"key":"ref39","first-page":"137","article-title":"Genetic engineering in the mouse: tuning TNF\/TNFR expression","volume":"98","author":"E Douni","year":"2004","journal-title":"Methods Mol Med"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"3944","DOI":"10.1242\/jcs.072090","article-title":"Specific proteolytic cleavage of agrin regulates maturation of the neuromuscular junction","volume":"123","author":"MF Bolliger","year":"2010","journal-title":"J Cell Sci"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.mcn.2010.01.011","article-title":"Impaired cerebellar development and deficits in motor coordination in mice lacking the neuronal protein BM88\/Cend1","volume":"44","author":"MC Sergaki","year":"2010","journal-title":"Mol Cell Neurosci"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1038\/mt.2015.50","article-title":"Intraspinal Delivery of Polyethylene Glycol-coated Gold Nanoparticles Promotes Functional Recovery After Spinal Cord Injury","volume":"23","author":"F Papastefanaki","year":"2015","journal-title":"Mol Ther"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1002\/glia.22959","article-title":"Neural stem\/progenitor cells differentiate into oligodendrocytes, reduce inflammation, and ameliorate learning deficits after transplantation in a mouse model of traumatic brain injury","volume":"64","author":"PN Koutsoudaki","year":"2016","journal-title":"Glia"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/nmeth.1322","article-title":"Universal sample preparation method for proteome analysis","volume":"6","author":"JR Wisniewski","year":"2009","journal-title":"Nat Methods"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1038\/nbt.1511","article-title":"MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification","volume":"26","author":"J Cox","year":"2008","journal-title":"Nat Biotechnol"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"2513","DOI":"10.1074\/mcp.M113.031591","article-title":"Accurate proteome-wide label-free quantification by delayed normalization and maximal peptide ratio extraction, termed MaxLFQ","volume":"13","author":"J Cox","year":"2014","journal-title":"Mol Cell Proteomics"}],"container-title":["PLOS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1006656","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T19:16:15Z","timestamp":1588965375000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1006656"}},"subtitle":[],"editor":[{"given":"Edmund","family":"Kunji","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,4,4]]},"references-count":46,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2017,4,4]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1006656","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,4]]}}}