| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | PXN, CMT4J
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| Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.
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| Otagiri T, Sugai K, Kijima K, Arai H, Sawaishi Y, Shimohata M, Hayasaka K.
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| J Hum Genet 51(7):625-8. Epub 2006 Jun 13. 2006
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