{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T12:18:39Z","timestamp":1792757919280,"version":"4.5.0"},"reference-count":67,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T00:00:00Z","timestamp":1563235200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T00:00:00Z","timestamp":1563235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000005","name":"Department of Defense","doi-asserted-by":"crossref","award":["W81XWH-17-1-0060"],"award-info":[{"award-number":["W81XWH-17-1-0060"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["DK58058"],"award-info":[{"award-number":["DK58058"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R01NS066927"],"award-info":[{"award-number":["R01NS066927"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000738","name":"Department of Veterans Affairs","doi-asserted-by":"crossref","award":["IBX003385A"],"award-info":[{"award-number":["IBX003385A"]}],"id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Neurobiol"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1007\/s12035-019-01693-8","type":"journal-article","created":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T07:03:48Z","timestamp":1563260628000},"page":"8656-8667","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Severe Consequences of SAC3\/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J"],"prefix":"10.1007","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9148-5255","authenticated-orcid":false,"given":"Assia","family":"Shisheva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Sbrissa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,7,16]]},"reference":[{"issue":"8","key":"1693_CR1","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1136\/jnnp-2014-308826","volume":"86","author":"V Fridman","year":"2015","unstructured":"Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S et al (2015) CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry 86(8):873\u2013878","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"7149","key":"1693_CR2","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature05876","volume":"448","author":"CY Chow","year":"2007","unstructured":"Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME et al (2007) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 448(7149):68\u201372","journal-title":"Nature"},{"issue":"Pt 7","key":"1693_CR3","doi-asserted-by":"publisher","first-page":"1959","DOI":"10.1093\/brain\/awr148","volume":"134","author":"G Nicholson","year":"2011","unstructured":"Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A et al (2011) Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4. Brain 134(Pt 7):1959\u20131971","journal-title":"Brain"},{"issue":"Pt 8","key":"1693_CR4","doi-asserted-by":"publisher","first-page":"1990","DOI":"10.1093\/brain\/awn114","volume":"131","author":"X Zhang","year":"2008","unstructured":"Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J (2008) Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain 131(Pt 8):1990\u20132001","journal-title":"Brain"},{"key":"1693_CR5","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.pneurobio.2012.11.001","volume":"101-102","author":"C Martyn","year":"2013","unstructured":"Martyn C, Li J (2013) Fig4 deficiency: a newly emerged lysosomal storage disorder? Prog Neurobiol 101-102:35\u201345","journal-title":"Prog Neurobiol"},{"key":"1693_CR6","unstructured":"Li J (2013) Charcot-Marie-Tooth neuropathy type 4J. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews((R)), Seattle"},{"issue":"4","key":"1693_CR7","doi-asserted-by":"publisher","first-page":"756","DOI":"10.1002\/ana.25198","volume":"83","author":"B Hu","year":"2018","unstructured":"Hu B, McCollum M, Ravi V, Arpag S, Moiseev D, Castoro R, Mobley B, Burnette B et al (2018) Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Ann Neurol 83(4):756\u2013770","journal-title":"Ann Neurol"},{"issue":"2","key":"1693_CR8","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1002\/acn3.525","volume":"5","author":"JP Orengo","year":"2018","unstructured":"Orengo JP, Khemani P, Day JW, Li J, Siskind CE (2018) Charcot Marie Tooth disease type 4J with complex central nervous system features. Ann Clin Transl Neurol 5(2):222\u2013225","journal-title":"Ann Clin Transl Neurol"},{"issue":"33","key":"1693_CR9","doi-asserted-by":"publisher","first-page":"23878","DOI":"10.1074\/jbc.M611678200","volume":"282","author":"D Sbrissa","year":"2007","unstructured":"Sbrissa D, Ikonomov OC, Fu Z, Ijuin T, Gruenberg J, Takenawa T, Shisheva A (2007) 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. J Biol Chem 282(33):23878\u201323891","journal-title":"J Biol Chem"},{"issue":"4","key":"1693_CR10","doi-asserted-by":"publisher","first-page":"766","DOI":"10.1016\/j.jmb.2008.10.009","volume":"384","author":"D Sbrissa","year":"2008","unstructured":"Sbrissa D, Ikonomov OC, Fenner H, Shisheva A (2008) ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality. J Mol Biol 384(4):766\u2013779","journal-title":"J Mol Biol"},{"issue":"35","key":"1693_CR11","doi-asserted-by":"publisher","first-page":"26760","DOI":"10.1074\/jbc.C110.154658","volume":"285","author":"OC Ikonomov","year":"2010","unstructured":"Ikonomov OC, Sbrissa D, Fligger J, Delvecchio K, Shisheva A (2010) ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder. J Biol Chem 285(35):26760\u201326764","journal-title":"J Biol Chem"},{"issue":"36","key":"1693_CR12","doi-asserted-by":"publisher","first-page":"23961","DOI":"10.1074\/jbc.M109.025361","volume":"284","author":"OC Ikonomov","year":"2009","unstructured":"Ikonomov OC, Sbrissa D, Ijuin T, Takenawa T, Shisheva A (2009) Sac3 is an insulin-regulated phosphatidylinositol 3,5-bisphosphate phosphatase: gain in insulin responsiveness through Sac3 down-regulation in adipocytes. J Biol Chem 284(36):23961\u201323971","journal-title":"J Biol Chem"},{"issue":"7112","key":"1693_CR13","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1038\/nature05185","volume":"443","author":"G Di Paolo","year":"2006","unstructured":"Di Paolo G, De Camilli P (2006) Phosphoinositides in cell regulation and membrane dynamics. Nature 443(7112):651\u2013657","journal-title":"Nature"},{"issue":"3","key":"1693_CR14","doi-asserted-by":"publisher","first-page":"1019","DOI":"10.1152\/physrev.00028.2012","volume":"93","author":"T Balla","year":"2013","unstructured":"Balla T (2013) Phosphoinositides: tiny lipids with giant impact on cell regulation. Physiol Rev 93(3):1019\u20131137","journal-title":"Physiol Rev"},{"key":"1693_CR15","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1016\/j.biochi.2015.09.005","volume":"125","author":"J Viaud","year":"2016","unstructured":"Viaud J, Mansour R, Antkowiak A, Mujalli A, Valet C, Chicanne G, Xuereb JM, Terrisse AD et al (2016) Phosphoinositides: important lipids in the coordination of cell dynamics. Biochimie 125:250\u2013258","journal-title":"Biochimie"},{"issue":"2","key":"1693_CR16","doi-asserted-by":"publisher","first-page":"C393","DOI":"10.1152\/ajpcell.00019.2006","volume":"291","author":"OC Ikonomov","year":"2006","unstructured":"Ikonomov OC, Sbrissa D, Shisheva A (2006) Localized PtdIns 3,5-P2 synthesis to regulate early endosome dynamics and fusion. Am J Physiol Cell Physiol 291(2):C393\u2013C404","journal-title":"Am J Physiol Cell Physiol"},{"key":"1693_CR17","first-page":"127","volume":"362","author":"A Shisheva","year":"2012","unstructured":"Shisheva A (2012) PIKfyve and its lipid products in health and in sickness. Curr Top Microbiol Immunol 362:127\u2013162","journal-title":"Curr Top Microbiol Immunol"},{"issue":"1","key":"1693_CR18","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1128\/MCB.19.1.623","volume":"19","author":"A Shisheva","year":"1999","unstructured":"Shisheva A, Sbrissa D, Ikonomov O (1999) Cloning, characterization, and expression of a novel Zn2+-binding FYVE finger-containing phosphoinositide kinase in insulin-sensitive cells. Mol Cell Biol 19(1):623\u2013634","journal-title":"Mol Cell Biol"},{"issue":"49","key":"1693_CR19","doi-asserted-by":"publisher","first-page":"47276","DOI":"10.1074\/jbc.M207576200","volume":"277","author":"D Sbrissa","year":"2002","unstructured":"Sbrissa D, Ikonomov OC, Deeb R, Shisheva A (2002) Phosphatidylinositol 5-phosphate biosynthesis is linked to PIKfyve and is involved in osmotic response pathway in mammalian cells. J Biol Chem 277(49):47276\u201347284","journal-title":"J Biol Chem"},{"issue":"4","key":"1693_CR20","doi-asserted-by":"publisher","first-page":"C436","DOI":"10.1152\/ajpcell.00105.2012","volume":"303","author":"D Sbrissa","year":"2012","unstructured":"Sbrissa D, Ikonomov OC, Filios C, Delvecchio K, Shisheva A (2012) Functional dissociation between PIKfyve-synthesized PtdIns5P and PtdIns(3,5)P2 by means of the PIKfyve inhibitor YM201636. Am J Physiol Cell Physiol 303(4):C436\u2013C446","journal-title":"Am J Physiol Cell Physiol"},{"issue":"2","key":"1693_CR21","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/j.abb.2013.07.023","volume":"538","author":"A Shisheva","year":"2013","unstructured":"Shisheva A (2013) PtdIns5P: news and views of its appearance, disappearance and deeds. Arch Biochem Biophys 538(2):171\u2013180","journal-title":"Arch Biochem Biophys"},{"key":"1693_CR22","doi-asserted-by":"publisher","unstructured":"Shisheva A, Sbrissa D, Ikonomov O (2015) Plentiful PtdIns5P from scanty PtdIns(3,5)P2 or from ample PtdIns? PIKfyve-dependent models: Evidence and speculation (response to: \n                    https:\/\/doi.org\/10.1002\/bies.201300012\n                    \n                  ). Bioessays 37 (3):267\u2013277","DOI":"10.1002\/bies.201300012"},{"issue":"51","key":"1693_CR23","doi-asserted-by":"publisher","first-page":"35794","DOI":"10.1074\/jbc.M109.037515","volume":"284","author":"OC Ikonomov","year":"2009","unstructured":"Ikonomov OC, Sbrissa D, Fenner H, Shisheva A (2009) PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis. J Biol Chem 284(51):35794\u201335806","journal-title":"J Biol Chem"},{"issue":"16","key":"1693_CR24","doi-asserted-by":"publisher","first-page":"3525","DOI":"10.1093\/hmg\/dds179","volume":"21","author":"CJ Ferguson","year":"2012","unstructured":"Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH (2012) Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Hum Mol Genet 21(16):3525\u20133534","journal-title":"Hum Mol Genet"},{"issue":"10","key":"1693_CR25","doi-asserted-by":"publisher","first-page":"e1002319","DOI":"10.1371\/journal.pgen.1002319","volume":"7","author":"I Vaccari","year":"2011","unstructured":"Vaccari I, Dina G, Tronchere H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B et al (2011) Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. PLoS Genet 7(10):e1002319","journal-title":"PLoS Genet"},{"issue":"14","key":"1693_CR26","doi-asserted-by":"publisher","first-page":"2443","DOI":"10.1093\/hmg\/ddy145","volume":"27","author":"YA Mironova","year":"2018","unstructured":"Mironova YA, Lin JP, Kalinski AL, Huffman LD, Lenk GM, Havton LA, Meisler MH, Giger RJ (2018) Protective role of the lipid phosphatase Fig4 in the adult nervous system. Hum Mol Genet 27(14):2443\u20132453","journal-title":"Hum Mol Genet"},{"issue":"6","key":"1693_CR27","doi-asserted-by":"publisher","first-page":"e1002104","DOI":"10.1371\/journal.pgen.1002104","volume":"7","author":"GM Lenk","year":"2011","unstructured":"Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ et al (2011) Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. PLoS Genet 7(6):e1002104","journal-title":"PLoS Genet"},{"issue":"9","key":"1693_CR28","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1093\/jnen\/nlx062","volume":"76","author":"BJ Gentil","year":"2017","unstructured":"Gentil BJ, O'Ferrall E, Chalk C, Santana LF, Durham HD, Massie R (2017) A new mutation in FIG4 causes a severe form of CMT4J involving TRPV4 in the pathogenic cascade. J Neuropathol Exp Neurol 76(9):789\u2013799","journal-title":"J Neuropathol Exp Neurol"},{"issue":"24","key":"1693_CR29","doi-asserted-by":"publisher","first-page":"6281","DOI":"10.1111\/febs.12452","volume":"280","author":"RH Michell","year":"2013","unstructured":"Michell RH (2013) Inositol lipids: from an archaeal origin to phosphatidylinositol 3,5-bisphosphate faults in human disease. FEBS J 280(24):6281\u20136294","journal-title":"FEBS J"},{"issue":"1","key":"1693_CR30","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1600-0854.2011.01246.x","volume":"13","author":"CY Ho","year":"2012","unstructured":"Ho CY, Alghamdi TA, Botelho RJ (2012) Phosphatidylinositol-3,5-bisphosphate: no longer the poor PIP(2). Traffic 13(1):1\u20138","journal-title":"Traffic"},{"issue":"4","key":"1693_CR31","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1091\/mbc.01-10-0498","volume":"13","author":"JD Gary","year":"2002","unstructured":"Gary JD, Sato TK, Stefan CJ, Bonangelino CJ, Weisman LS, Emr SD (2002) Regulation of Fab1 phosphatidylinositol 3-phosphate 5-kinase pathway by Vac7 protein and Fig4, a polyphosphoinositide phosphatase family member. Mol Biol Cell 13(4):1238\u20131251","journal-title":"Mol Biol Cell"},{"issue":"1","key":"1693_CR32","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1091\/mbc.e03-05-0297","volume":"15","author":"SA Rudge","year":"2004","unstructured":"Rudge SA, Anderson DM, Emr SD (2004) Vacuole size control: regulation of PtdIns(3,5)P2 levels by the vacuole-associated Vac14-Fig4 complex, a PtdIns(3,5)P2-specific phosphatase. Mol Biol Cell 15(1):24\u201336","journal-title":"Mol Biol Cell"},{"issue":"15","key":"1693_CR33","doi-asserted-by":"publisher","first-page":"13404","DOI":"10.1074\/jbc.M111.222364","volume":"286","author":"OC Ikonomov","year":"2011","unstructured":"Ikonomov OC, Sbrissa D, Delvecchio K, Xie Y, Jin JP, Rappolee D, Shisheva A (2011) The phosphoinositide kinase PIKfyve is vital in early embryonic development: PREIMPLANTATION LETHALITY OF PIKfyve\u2212\/\u2212 EMBRYOS BUT NORMALITY OF PIKfyve+\/\u2212 MICE. J Biol Chem 286(15):13404\u201313413","journal-title":"J Biol Chem"},{"issue":"5","key":"1693_CR34","doi-asserted-by":"publisher","first-page":"1240","DOI":"10.1016\/j.bbamcr.2015.01.008","volume":"1853","author":"OC Ikonomov","year":"2015","unstructured":"Ikonomov OC, Sbrissa D, Venkatareddy M, Tisdale E, Garg P, Shisheva A (2015) Class III PI 3-kinase is the main source of PtdIns3P substrate and membrane recruitment signal for PIKfyve constitutive function in podocyte endomembrane homeostasis. Biochim Biophys Acta 1853(5):1240\u20131250","journal-title":"Biochim Biophys Acta"},{"issue":"9","key":"1693_CR35","doi-asserted-by":"publisher","first-page":"e0204532","DOI":"10.1371\/journal.pone.0204532","volume":"13","author":"D Sbrissa","year":"2018","unstructured":"Sbrissa D, Naisan G, Ikonomov OC, Shisheva A (2018) Apilimod, a candidate anticancer therapeutic, arrests not only PtdIns(3,5)P2 but also PtdIns5P synthesis by PIKfyve and induces bafilomycin A1-reversible aberrant endomembrane dilation. PLoS One 13(9):e0204532","journal-title":"PLoS One"},{"issue":"6","key":"1693_CR36","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1002\/ana.24776","volume":"80","author":"B Hu","year":"2016","unstructured":"Hu B, Arpag S, Zuchner S, Li J (2016) A novel missense mutation of CMT2P alters transcription machinery. Ann Neurol 80(6):834\u2013845","journal-title":"Ann Neurol"},{"issue":"3","key":"1693_CR37","doi-asserted-by":"publisher","first-page":"C366","DOI":"10.1152\/ajpcell.00104.2016","volume":"311","author":"LM Compton","year":"2016","unstructured":"Compton LM, Ikonomov OC, Sbrissa D, Garg P, Shisheva A (2016) Active vacuolar H+ ATPase and functional cycle of Rab5 are required for the vacuolation defect triggered by PtdIns(3,5)P2 loss under PIKfyve or Vps34 deficiency. Am J Physiol Cell Physiol 311(3):C366\u2013C377","journal-title":"Am J Physiol Cell Physiol"},{"issue":"15","key":"1693_CR38","doi-asserted-by":"publisher","first-page":"9919","DOI":"10.1074\/jbc.M114.613984","volume":"290","author":"CY Ho","year":"2015","unstructured":"Ho CY, Choy CH, Wattson CA, Johnson DE, Botelho RJ (2015) The Fab1\/PIKfyve phosphoinositide phosphate kinase is not necessary to maintain the pH of lysosomes and of the yeast vacuole. J Biol Chem 290(15):9919\u20139928","journal-title":"J Biol Chem"},{"issue":"9","key":"1693_CR39","doi-asserted-by":"publisher","first-page":"7883","DOI":"10.1074\/jbc.M412729200","volume":"280","author":"D Sbrissa","year":"2005","unstructured":"Sbrissa D, Shisheva A (2005) Acquisition of unprecedented phosphatidylinositol 3,5-bisphosphate rise in hyperosmotically stressed 3T3-L1 adipocytes, mediated by ArPIKfyve-PIKfyve pathway. J Biol Chem 280(9):7883\u20137889","journal-title":"J Biol Chem"},{"issue":"7","key":"1693_CR40","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1016\/j.chembiol.2013.05.010","volume":"20","author":"X Cai","year":"2013","unstructured":"Cai X, Xu Y, Cheung AK, Tomlinson RC, Alcazar-Roman A, Murphy L, Billich A, Zhang B et al (2013) PIKfyve, a class III PI kinase, is the target of the small molecular IL-12\/IL-23 inhibitor apilimod and a player in Toll-like receptor signaling. Chem Biol 20(7):912\u2013921","journal-title":"Chem Biol"},{"issue":"28","key":"1693_CR41","doi-asserted-by":"publisher","first-page":"26141","DOI":"10.1074\/jbc.M101722200","volume":"276","author":"OC Ikonomov","year":"2001","unstructured":"Ikonomov OC, Sbrissa D, Shisheva A (2001) Mammalian cell morphology and endocytic membrane homeostasis require enzymatically active phosphoinositide 5-kinase PIKfyve. J Biol Chem 276(28):26141\u201326147","journal-title":"J Biol Chem"},{"issue":"11","key":"1693_CR42","doi-asserted-by":"publisher","first-page":"9206","DOI":"10.1074\/jbc.M108750200","volume":"277","author":"OC Ikonomov","year":"2002","unstructured":"Ikonomov OC, Sbrissa D, Mlak K, Kanzaki M, Pessin J, Shisheva A (2002) Functional dissection of lipid and protein kinase signals of PIKfyve reveals the role of PtdIns 3,5-P2 production for endomembrane integrity. J Biol Chem 277(11):9206\u20139211","journal-title":"J Biol Chem"},{"issue":"5","key":"1693_CR43","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1016\/j.ajhg.2013.03.020","volume":"92","author":"PM Campeau","year":"2013","unstructured":"Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Roman Corona-Rivera J, Morandi L et al (2013) Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet 92(5):781\u2013791","journal-title":"Am J Hum Genet"},{"issue":"12","key":"1693_CR44","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1038\/jhg.2013.104","volume":"58","author":"J Nakajima","year":"2013","unstructured":"Nakajima J, Okamoto N, Shiraishi J, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H et al (2013) Novel FIG4 mutations in Yunis-Varon syndrome. J Hum Genet 58(12):822\u2013824","journal-title":"J Hum Genet"},{"issue":"12","key":"1693_CR45","doi-asserted-by":"publisher","first-page":"1068","DOI":"10.1212\/WNL.0000000000000241","volume":"82","author":"S Baulac","year":"2014","unstructured":"Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ et al (2014) Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology 82(12):1068\u20131075","journal-title":"Neurology"},{"issue":"1","key":"1693_CR46","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.ajhg.2008.12.010","volume":"84","author":"CY Chow","year":"2009","unstructured":"Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM et al (2009) Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 84(1):85\u201388","journal-title":"Am J Hum Genet"},{"issue":"3","key":"1693_CR47","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1038\/ejhg.2016.186","volume":"25","author":"A Osmanovic","year":"2017","unstructured":"Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, Raab P, Preller M et al (2017) FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. Eur J Hum Genet 25(3):324\u2013331","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"1693_CR48","doi-asserted-by":"publisher","first-page":"e41","DOI":"10.1111\/ene.13559","volume":"25","author":"C Bertolin","year":"2018","unstructured":"Bertolin C, Querin G, Bozzoni V, Martinelli I, De Bortoli M, Rampazzo A, Gellera C, Pegoraro E et al (2018) New FIG4 gene mutations causing aggressive ALS. Eur J Neurol 25(3):e41\u2013e42","journal-title":"Eur J Neurol"},{"key":"1693_CR49","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1002\/humu.23720","volume":"40","author":"GM Lenk","year":"2019","unstructured":"Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I et al (2019) Cerebral hypomyelination associated with biallelic variants of FIG4. Hum Mutat 40:619\u2013630","journal-title":"Hum Mutat"},{"issue":"11","key":"1693_CR50","doi-asserted-by":"publisher","first-page":"1254","DOI":"10.1111\/j.1365-2362.2011.02519.x","volume":"41","author":"AE Handel","year":"2011","unstructured":"Handel AE, Lincoln MR, Ramagopalan SV (2011) Of mice and men: experimental autoimmune encephalitis and multiple sclerosis. Eur J Clin Investig 41(11):1254\u20131258","journal-title":"Eur J Clin Investig"},{"key":"1693_CR51","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1146\/annurev-physiol-030212-183754","volume":"75","author":"P Rorsman","year":"2013","unstructured":"Rorsman P, Braun M (2013) Regulation of insulin secretion in human pancreatic islets. Annu Rev Physiol 75:155\u2013179","journal-title":"Annu Rev Physiol"},{"issue":"2","key":"1693_CR52","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.molcel.2014.12.007","volume":"57","author":"M Vicinanza","year":"2015","unstructured":"Vicinanza M, Korolchuk VI, Ashkenazi A, Puri C, Menzies FM, Clarke JH, Rubinsztein DC (2015) PI(5)P regulates autophagosome biogenesis. Mol Cell 57(2):219\u2013234","journal-title":"Mol Cell"},{"issue":"11","key":"1693_CR53","doi-asserted-by":"publisher","first-page":"4853","DOI":"10.1210\/en.2004-0489","volume":"145","author":"D Sbrissa","year":"2004","unstructured":"Sbrissa D, Ikonomov OC, Strakova J, Shisheva A (2004) Role for a novel signaling intermediate, phosphatidylinositol 5-phosphate, in insulin-regulated F-actin stress fiber breakdown and GLUT4 translocation. Endocrinology 145(11):4853\u20134865","journal-title":"Endocrinology"},{"issue":"4","key":"1693_CR54","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1242\/jcs.166314","volume":"128","author":"F Boal","year":"2015","unstructured":"Boal F, Mansour R, Gayral M, Saland E, Chicanne G, Xuereb JM, Marcellin M, Burlet-Schiltz O et al (2015) TOM1 is a PI5P effector involved in the regulation of endosomal maturation. J Cell Sci 128(4):815\u2013827","journal-title":"J Cell Sci"},{"issue":"6","key":"1693_CR55","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1016\/j.cellbi.2008.01.006","volume":"32","author":"A Shisheva","year":"2008","unstructured":"Shisheva A (2008) PIKfyve: partners, significance, debates and paradoxes. Cell Biol Int 32(6):591\u2013604","journal-title":"Cell Biol Int"},{"issue":"3","key":"1693_CR56","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1042\/BJ20120008","volume":"443","author":"M Falasca","year":"2012","unstructured":"Falasca M, Maffucci T (2012) Regulation and cellular functions of class II phosphoinositide 3-kinases. Biochem J 443(3):587\u2013601","journal-title":"Biochem J"},{"issue":"1","key":"1693_CR57","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1042\/BJ20071427","volume":"410","author":"JM Backer","year":"2008","unstructured":"Backer JM (2008) The regulation and function of Class III PI3Ks: novel roles for Vps34. Biochem J 410(1):1\u201317","journal-title":"Biochem J"},{"issue":"8","key":"1693_CR58","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.tcb.2006.06.001","volume":"16","author":"FL Robinson","year":"2006","unstructured":"Robinson FL, Dixon JE (2006) Myotubularin phosphatases: policing 3-phosphoinositides. Trends Cell Biol 16(8):403\u2013412","journal-title":"Trends Cell Biol"},{"issue":"Pt 18","key":"1693_CR59","doi-asserted-by":"publisher","first-page":"3071","DOI":"10.1242\/jcs.060103","volume":"123","author":"MJ Naughtin","year":"2010","unstructured":"Naughtin MJ, Sheffield DA, Rahman P, Hughes WE, Gurung R, Stow JL, Nandurkar HH, Dyson JM et al (2010) The myotubularin phosphatase MTMR4 regulates sorting from early endosomes. J Cell Sci 123(Pt 18):3071\u20133083","journal-title":"J Cell Sci"},{"issue":"8","key":"1693_CR60","doi-asserted-by":"publisher","first-page":"3334","DOI":"10.1091\/mbc.e08-04-0367","volume":"19","author":"C Cao","year":"2008","unstructured":"Cao C, Backer JM, Laporte J, Bedrick EJ, Wandinger-Ness A (2008) Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking. Mol Biol Cell 19(8):3334\u20133346","journal-title":"Mol Biol Cell"},{"issue":"17","key":"1693_CR61","doi-asserted-by":"publisher","first-page":"6801","DOI":"10.1523\/JNEUROSCI.4442-14.2015","volume":"35","author":"J Zou","year":"2015","unstructured":"Zou J, Hu B, Arpag S, Yan Q, Hamilton A, Zeng YS, Vanoye CG, Li J (2015) Reactivation of lysosomal Ca2+ efflux rescues abnormal lysosomal storage in FIG4-deficient cells. J Neurosci 35(17):6801\u20136812","journal-title":"J Neurosci"},{"key":"1693_CR62","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.taap.2018.08.001","volume":"356","author":"OC Ikonomov","year":"2018","unstructured":"Ikonomov OC, Altankov G, Sbrissa D, Shisheva A (2018) PIKfyve inhibitor cytotoxicity requires AKT suppression and excessive cytoplasmic vacuolation. Toxicol Appl Pharmacol 356:151\u2013158","journal-title":"Toxicol Appl Pharmacol"},{"issue":"6","key":"1693_CR63","doi-asserted-by":"publisher","first-page":"1630","DOI":"10.1016\/j.ajpath.2014.02.028","volume":"184","author":"WA Maltese","year":"2014","unstructured":"Maltese WA, Overmeyer JH (2014) Methuosis: nonapoptotic cell death associated with vacuolization of macropinosome and endosome compartments. Am J Pathol 184(6):1630\u20131642","journal-title":"Am J Pathol"},{"issue":"2","key":"1693_CR64","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1007\/s12035-012-8280-y","volume":"47","author":"K Wakabayashi","year":"2013","unstructured":"Wakabayashi K, Tanji K, Odagiri S, Miki Y, Mori F, Takahashi H (2013) The Lewy body in Parkinson\u2019s disease and related neurodegenerative disorders. Mol Neurobiol 47(2):495\u2013508","journal-title":"Mol Neurobiol"},{"issue":"1","key":"1693_CR65","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1111\/neup.12056","volume":"34","author":"T Kon","year":"2014","unstructured":"Kon T, Mori F, Tanji K, Miki Y, Toyoshima Y, Yoshida M, Sasaki H, Kakita A et al (2014) ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases. Neuropathology 34(1):19\u201326","journal-title":"Neuropathology"},{"issue":"8","key":"1693_CR66","doi-asserted-by":"publisher","first-page":"1401","DOI":"10.1111\/j.1460-9568.2011.07651.x","volume":"33","author":"I Katona","year":"2011","unstructured":"Katona I, Zhang X, Bai Y, Shy ME, Guo J, Yan Q, Hatfield J, Kupsky WJ et al (2011) Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. Eur J Neurosci 33(8):1401\u20131410","journal-title":"Eur J Neurosci"},{"issue":"47","key":"1693_CR67","doi-asserted-by":"publisher","first-page":"28515","DOI":"10.1074\/jbc.M115.669929","volume":"290","author":"OC Ikonomov","year":"2015","unstructured":"Ikonomov OC, Sbrissa D, Compton LM, Kumar R, Tisdale EJ, Chen X, Shisheva A (2015) The protein complex of neurodegeneration-related phosphoinositide phosphatase Sac3 and ArPIKfyve binds the Lewy body-associated Synphilin-1, preventing its aggregation. J Biol Chem 290(47):28515\u201328529","journal-title":"J Biol Chem"}],"container-title":["Molecular Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-019-01693-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12035-019-01693-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-019-01693-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,14]],"date-time":"2020-07-14T23:22:23Z","timestamp":1594768943000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12035-019-01693-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,16]]},"references-count":67,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["1693"],"URL":"https:\/\/doi.org\/10.1007\/s12035-019-01693-8","relation":{},"ISSN":["0893-7648","1559-1182"],"issn-type":[{"value":"0893-7648","type":"print"},{"value":"1559-1182","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,16]]},"assertion":[{"value":"2 May 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 July 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 July 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the Wayne State University Institutional Review Board (IRB) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed Consent"}},{"value":"The authors declare that they have no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}