| 1 | FIG4, PIKFYVE, VAC14
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| The Vac14-interaction network is linked to regulators of the endolysosomal and autophagic pathway.
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| Schulze U, Vollenbröker B, Braun DA, Van Le T, Granado D, Kremerskothen J, Fränzel B, Klosowski R, Barth J, Fufezan C, Wolters DA, Pavenstädt H, Weide T.
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| Mol Cell Proteomics 13(6):1397-411. doi: 10.1074/mcp.M113.034108. Epub 2014 Feb 27.
2014
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| 2 | FIG4, YVS
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| Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase.
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| Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH.
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| Am J Hum Genet 92(5):781-91. doi: 10.1016/j.ajhg.2013.03.020. Epub 2013 Apr 25.
2013
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| 3 | CMT4J, FIG4
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| Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.
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| Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH.
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| Hum Mol Genet 21(16):3525-34. doi: 10.1093/hmg/dds179. Epub 2012 May 11.
2012
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| 4 | CMT4J, FIG4
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| Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
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| Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH.
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| PLoS Genet 7(6):e1002104. Epub 2011 Jun 2.
2011
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| 5 | CMT4B1, CMT4J, FIG4, MTMR2
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| Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
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| Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A.
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| PLoS Genet 7(10):e1002319. doi: 10.1371/journal.pgen.1002319. Epub 2011 Oct 20.
2011
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| 6 | CMT4J, FIG4, VAC14
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| ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder.
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| Ikonomov OC, Sbrissa D, Fligger J, Delvecchio K, Shisheva A.
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| J Biol Chem 285(35):26760-4. Epub 2010 Jul 14.PMID: 20630877 2010
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| 7 | CMT4J, FIG4
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| Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
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| Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH.
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| Am J Hum Genet 84(1):85-8.
2009
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| 8 | FIG4, PIKFYVE, VAC14
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| PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis.
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| Ikonomov OC, Sbrissa D, Fenner H, Shisheva A.
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| J Biol Chem 284(51):35794-806. Epub .PMID: 19840946 2009
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| 9 | CMT4J, FIG4
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| Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
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| Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J.
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| Brain 131(Pt 8):1990-2001. Epub 2008 Jun 12.PMID: 18556664 2008
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| 10 | FIG4, PIKFYVE, VAC14
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| VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.
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| Jin N, Chow CY, Liu L, Zolov SN, Bronson R, Davisson M, Petersen JL, Zhang Y, Park S, Duex JE, Goldowitz D, Meisler MH, Weisman LS.
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| EMBO J 27(24):3221-34. Epub 2008 Nov 27.PMID: 19037259 2008
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| 11 | CMT4J, FIG4
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| Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
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| Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH.
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| Nature 448(7149):68-72. Epub 2007 Jun 17. 2007
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| 12 | FIG4
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| rSac3, a novel Sac domain phosphoinositide phosphatase, promotes neurite outgrowth in PC12 cells.
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| Yuan Y, Gao X, Guo N, Zhang H, Xie Z, Jin M, Li B, Yu L, Jing N.
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| Cell Res 17(11):919-32. 2007
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| 13 | INPP5F, FIG4
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| Identification and characterization of a sac domain-containing phosphoinositide 5-phosphatase.
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| Minagawa T, Ijuin T, Mochizuki Y, Takenawa T.
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| J Biol Chem 276(25):22011-5. Epub 2001 Mar 26. 2001
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| 14 | ANKS1A, BCL2L2, DCUN1D4, DHX38, DHX38, DVL3, EDEM1, FAM38A, FIG4, GCN1, HSPH1, IHPK1, KIAA0232, KIAA0240, KIAA0247, LARP4B, LPGAT1, LRRC8B, MFN2, MRPS27, NCSTN, NUP205, PHF15, PHF16, PHYHIP, PIEZO1, PUM2, RAPGEF5, RGP1, RIMS3, RNF10, RTF1, RUBCN, SNX19, SPOCK2, STAB1, TATDN2, TBC1D5, TIAF1, TM9SF4, TOPBP1, WAPL, WASF1, ZNF516, ZNF516, ZNF592
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| Prediction of the coding sequences of unidentified human genes. VI. the coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.
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| Nagase T, et al.
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| DNA Res 3 : 321-329,341-54. 1996
|