{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:06:34Z","timestamp":1779930394741,"version":"3.53.1"},"reference-count":38,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP19K06659"],"award-info":[{"award-number":["JP19K06659"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Cell Research"],"published-print":{"date-parts":[[2020,1]]},"DOI":"10.1016\/j.yexcr.2019.111711","type":"journal-article","created":{"date-parts":[[2019,11,5]],"date-time":"2019-11-05T11:37:54Z","timestamp":1572953874000},"page":"111711","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of CR43467 encoding a long non-coding RNA as a novel genetic interactant with dFIG4, a CMT-causing gene"],"prefix":"10.1016","volume":"386","author":[{"given":"Saki","family":"Shimada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuuka","family":"Muraoka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimihide","family":"Ibaraki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Takano-Shimizu-Kouno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masamitsu","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.yexcr.2019.111711_bib1","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1038\/jhg.2011.20","article-title":"Molecular diagnosis and clinical onset of Charcot-Marie-tooth disease in Japan","volume":"56","author":"Abe","year":"2011","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2019.111711_bib2","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature05876","article-title":"Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J","volume":"448","author":"Chow","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.yexcr.2019.111711_bib3","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1097\/WCO.0000000000000373","article-title":"Recent advances in the genetic neuropathies","volume":"29","author":"Rossor","year":"2016","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.yexcr.2019.111711_bib4","doi-asserted-by":"crossref","first-page":"1990","DOI":"10.1093\/brain\/awn114","article-title":"Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration","volume":"131","author":"Zhang","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.yexcr.2019.111711_bib5","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/j.ajhg.2013.03.020","article-title":"Yunis-Var\u00f3n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase","volume":"92","author":"Campeau","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2019.111711_bib6","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1212\/WNL.0000000000000241","article-title":"Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria","volume":"82","author":"Baulac","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.yexcr.2019.111711_bib7","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ajhg.2008.12.010","article-title":"Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS","volume":"84","author":"Chow","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2019.111711_bib8","doi-asserted-by":"crossref","first-page":"12990","DOI":"10.1074\/jbc.274.19.12990","article-title":"SAC1-like domains of yeast SAC1, INP52, and INP53 and of human synaptojanin encode polyphosphoinositide phosphatases","volume":"274","author":"Guo","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.yexcr.2019.111711_bib9","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1042\/bj3500337","article-title":"Sac phosphatase domain proteins","volume":"350","author":"Hughes","year":"2000","journal-title":"Biochem. J."},{"key":"10.1016\/j.yexcr.2019.111711_bib10","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1074\/jbc.275.2.801","article-title":"SAC1 encodes a regulated lipid phosphoinositide phosphatase, defects in which can be suppressed by the homologous Inp52p and Inp53p phosphatases","volume":"275","author":"Hughes","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.yexcr.2019.111711_bib11","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1091\/mbc.01-10-0498","article-title":"Regulation of Fab1 phosphatidylinositol 3-phosphate 5-kinase pathway by Vac7 protein and Fig4, a polyphosphoinositide phosphatase family member","volume":"13","author":"Gary","year":"2002","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.yexcr.2019.111711_bib12","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1091\/mbc.e03-05-0297","article-title":"Vacuole size control: regulation of PtdIns(3,5)P2 levels by the vacuole-associated Vac14-Fig4 complex, a PtdIns(3,5)P2-specific phosphatase","volume":"15","author":"Rudge","year":"2004","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.yexcr.2019.111711_bib13","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1128\/EC.5.4.723-731.2006","article-title":"Phosphoinositide 5-phosphatase Fig 4p is required for both acute rise and subsequent fall in stress-induced phosphatidylinositol 3,5-bisphosphate levels","volume":"5","author":"Duex","year":"2006","journal-title":"Eukaryot. Cell"},{"key":"10.1016\/j.yexcr.2019.111711_bib14","doi-asserted-by":"crossref","first-page":"17736","DOI":"10.1523\/JNEUROSCI.1482-11.2011","article-title":"Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4","volume":"31","author":"Winters","year":"2011","journal-title":"J. Neurosci."},{"key":"10.1016\/j.yexcr.2019.111711_bib15","doi-asserted-by":"crossref","first-page":"3221","DOI":"10.1038\/emboj.2008.248","article-title":"VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI (3,5)P(2) in yeast and mouse","volume":"27","author":"Jin","year":"2008","journal-title":"EMBO J."},{"key":"10.1016\/j.yexcr.2019.111711_bib16","doi-asserted-by":"crossref","first-page":"23961","DOI":"10.1074\/jbc.M109.025361","article-title":"Sac3 is an insulin regulated phosphatidylinositol 3,5-bisphosphate phosphatase: gain in insulin responsiveness through Sac3 down-regulation in adipocytes","volume":"284","author":"Ikonomov","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.yexcr.2019.111711_bib17","doi-asserted-by":"crossref","first-page":"23878","DOI":"10.1074\/jbc.M611678200","article-title":"Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex","volume":"282","author":"Sbrissa","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.yexcr.2019.111711_bib18","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1016\/j.jmb.2008.10.009","article-title":"ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality","volume":"384","author":"Sbrissa","year":"2008","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.yexcr.2019.111711_bib19","doi-asserted-by":"crossref","first-page":"3481","DOI":"10.1038\/emboj.2011.286","article-title":"Endosome maturation","volume":"30","author":"Huotari","year":"2011","journal-title":"EMBO J."},{"key":"10.1016\/j.yexcr.2019.111711_bib20","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.expneurol.2015.12.011","article-title":"Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development","volume":"277","author":"Kyotani","year":"2016","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.yexcr.2019.111711_bib21","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1093\/hmg\/ddv505","article-title":"FIG4 regulates lysosome membrane homeostasis independent of phosphatase function","volume":"25","author":"Bharadwaj","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.yexcr.2019.111711_bib22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.expneurol.2018.08.009","article-title":"Genetic screening of the genes interacting with Drosophila FIG4 identified a novel link between CMT-causing gene and long noncoding RNAs","volume":"310","author":"Muraoka","year":"2018","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.yexcr.2019.111711_bib23","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S0070-2153(09)89005-4","article-title":"Principles of Drosophila eye differentiation","volume":"89","author":"Cagan","year":"2009","journal-title":"Curr. Top. Dev. Biol."},{"key":"10.1016\/j.yexcr.2019.111711_bib24","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.yexcr.2014.06.004","article-title":"Genetic link between Cabeza, a Drosophila homologue of Fused in Sarcoma (FUS), and the EGFR signaling pathway","volume":"326","author":"Shimamura","year":"2014","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.yexcr.2019.111711_bib25","doi-asserted-by":"crossref","first-page":"26042","DOI":"10.1074\/jbc.273.40.26042","article-title":"The DNA replication-related element (DRE)\/DRE-binding factor system is a transcriptional regulator of the Drosophila E2F gene","volume":"273","author":"Sawado","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.yexcr.2019.111711_bib26","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1093\/nar\/27.2.510","article-title":"Identification of three conserved regions in the DREF transcription factors from Drosophila melanogaster and Drosophila virilis","volume":"27","author":"Takahashi","year":"1999","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.yexcr.2019.111711_bib27","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1038\/nmeth.3972","article-title":"Augmenting CRISPR applications in Drosophila with tRNA-flanked sgRNAs","volume":"13","author":"Port","year":"2016","journal-title":"Nat. Methods"},{"key":"10.1016\/j.yexcr.2019.111711_bib28","doi-asserted-by":"crossref","first-page":"1622","DOI":"10.1093\/brain\/awy104","article-title":"Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy","volume":"141","author":"Higuchi","year":"2018","journal-title":"Brain"},{"key":"10.1016\/j.yexcr.2019.111711_bib29","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1006\/bbrc.1994.1302","article-title":"Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein","volume":"199","author":"Kamijo","year":"1994","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.yexcr.2019.111711_bib30","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.yexcr.2019.03.040","article-title":"Neuron-specific knockdown of Drosophila HADHB induces a shortened lifespan, deficient locomotive ability, abnormal motor neuron terminal morphology and learning disability","volume":"379","author":"Li","year":"2019","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.yexcr.2019.111711_bib31","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1093\/oxfordjournals.jbchem.a131181","article-title":"Properties and subunit structure of pig heart pyruvate dehydrogenase","volume":"79","author":"Hamada","year":"1976","journal-title":"J. Biochem."},{"key":"10.1016\/j.yexcr.2019.111711_bib32","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/j.1749-6632.1989.tb15011.x","article-title":"The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency","volume":"573","author":"Brown","year":"1989","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.yexcr.2019.111711_bib33","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ymgme.2011.09.032","article-title":"The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients","volume":"105","author":"Patel","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.yexcr.2019.111711_bib34","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.yexcr.2018.02.035","article-title":"Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting","volume":"366","author":"Dung","year":"2018","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.yexcr.2019.111711_bib35","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1007\/s12035-016-9793-6","article-title":"The role of long noncoding RNAs in neurodegenerative diseases","volume":"54","author":"Wan","year":"2016","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.yexcr.2019.111711_bib36","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.expneurol.2017.03.011","article-title":"RNAi of arcRNA hsr\u03c9 affects sub-cellular localization of Drosophila FUS to drive neurodisease","volume":"292","author":"Lo Piccolo","year":"2017","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.yexcr.2019.111711_bib37","doi-asserted-by":"crossref","DOI":"10.1038\/nature07015","article-title":"The Drosophila hairpin RNA pathway generates endogenous short interfering RNAs","volume":"453","author":"Okamura","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.yexcr.2019.111711_bib38","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/978-981-13-0529-0_7","article-title":"Drosophila Charcot-Marie-Tooth disease models","volume":"1076","author":"Yamaguchi","year":"2018","journal-title":"Adv. Exp. Med. Biol."}],"container-title":["Experimental Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014482719305907?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014482719305907?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T20:08:40Z","timestamp":1777406920000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014482719305907"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["S0014482719305907"],"URL":"https:\/\/doi.org\/10.1016\/j.yexcr.2019.111711","relation":{},"ISSN":["0014-4827"],"issn-type":[{"value":"0014-4827","type":"print"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of CR43467 encoding a long non-coding RNA as a novel genetic interactant with dFIG4, a CMT-causing gene","name":"articletitle","label":"Article Title"},{"value":"Experimental Cell Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yexcr.2019.111711","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"111711"}}