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189 related items for PubMed ID: 37363915

  • 1. The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
    Cao X, Lenk GM, Mikusevic V, Mindell JA, Meisler MH.
    PLoS Genet; 2023 Jun; 19(6):e1010800. PubMed ID: 37363915
    [Abstract] [Full Text] [Related]

  • 2. Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.
    Lenk GM, Meisler MH.
    Mol Genet Metab; 2022 Dec; 137(4):382-387. PubMed ID: 36434903
    [Abstract] [Full Text] [Related]

  • 3. Protective role of the lipid phosphatase Fig4 in the adult nervous system.
    Mironova YA, Lin JP, Kalinski AL, Huffman LD, Lenk GM, Havton LA, Meisler MH, Giger RJ.
    Hum Mol Genet; 2018 Jul 15; 27(14):2443-2453. PubMed ID: 29688489
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  • 4. Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
    Cao X, Lenk GM, Meisler MH.
    G3 (Bethesda); 2023 Aug 09; 13(8):. PubMed ID: 36691351
    [Abstract] [Full Text] [Related]

  • 5. FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.
    Bharadwaj R, Cunningham KM, Zhang K, Lloyd TE.
    Hum Mol Genet; 2016 Feb 15; 25(4):681-92. PubMed ID: 26662798
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  • 6. Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.
    Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH.
    Hum Mol Genet; 2012 Aug 15; 21(16):3525-34. PubMed ID: 22581779
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  • 8. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
    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.
    Am J Hum Genet; 2013 May 02; 92(5):781-91. PubMed ID: 23623387
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  • 10. Cerebral hypomyelination associated with biallelic variants of FIG4.
    Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S, Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH.
    Hum Mutat; 2019 May 02; 40(5):619-630. PubMed ID: 30740813
    [Abstract] [Full Text] [Related]

  • 11. Vacuole size control: regulation of PtdIns(3,5)P2 levels by the vacuole-associated Vac14-Fig4 complex, a PtdIns(3,5)P2-specific phosphatase.
    Rudge SA, Anderson DM, Emr SD.
    Mol Biol Cell; 2004 Jan 02; 15(1):24-36. PubMed ID: 14528018
    [Abstract] [Full Text] [Related]

  • 12. Roles for a lipid phosphatase in the activation of its opposing lipid kinase.
    Strunk BS, Steinfeld N, Lee S, Jin N, Muñoz-Rivera C, Meeks G, Thomas A, Akemann C, Mapp AK, MacGurn JA, Weisman LS.
    Mol Biol Cell; 2020 Aug 01; 31(17):1835-1845. PubMed ID: 32583743
    [Abstract] [Full Text] [Related]

  • 13. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
    Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH.
    PLoS Genet; 2011 Jun 01; 7(6):e1002104. PubMed ID: 21655088
    [Abstract] [Full Text] [Related]

  • 14. Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells.
    Zou J, Hu B, Arpag S, Yan Q, Hamilton A, Zeng YS, Vanoye CG, Li J.
    J Neurosci; 2015 Apr 29; 35(17):6801-12. PubMed ID: 25926456
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  • 16. Novel FIG4 mutations in Yunis-Varon syndrome.
    Nakajima J, Okamoto N, Shiraishi J, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N.
    J Hum Genet; 2013 Dec 29; 58(12):822-4. PubMed ID: 24088667
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  • 17. FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
    Zimmermann M, Schuster S, Boesch S, Korenke GC, Mohr J, Reichbauer J, Kernstock C, Kotzot D, Spahlinger V, Schüle-Freyer R, Schöls L.
    Parkinsonism Relat Disord; 2020 May 29; 74():6-11. PubMed ID: 32268254
    [Abstract] [Full Text] [Related]

  • 18. Insights into Lysosomal PI(3,5)P2 Homeostasis from a Structural-Biochemical Analysis of the PIKfyve Lipid Kinase Complex.
    Lees JA, Li P, Kumar N, Weisman LS, Reinisch KM.
    Mol Cell; 2020 Nov 19; 80(4):736-743.e4. PubMed ID: 33098764
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  • 19. AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
    Presa M, Bailey RM, Davis C, Murphy T, Cook J, Walls R, Wilpan H, Bogdanik L, Lenk GM, Burgess RW, Gray SJ, Lutz C.
    J Clin Invest; 2021 Jun 01; 131(11):. PubMed ID: 33878035
    [Abstract] [Full Text] [Related]

  • 20. Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.
    Lenk GM, Meisler MH.
    Methods Enzymol; 2014 Jun 01; 534():245-60. PubMed ID: 24359958
    [Abstract] [Full Text] [Related]

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