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196 related items for PubMed ID: 15998640

  • 1. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
    Robinson FL, Dixon JE.
    J Biol Chem; 2005 Sep 09; 280(36):31699-707. PubMed ID: 15998640
    [Abstract] [Full Text] [Related]

  • 2. The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.
    Ng AA, Logan AM, Schmidt EJ, Robinson FL.
    Hum Mol Genet; 2013 Apr 15; 22(8):1493-506. PubMed ID: 23297362
    [Abstract] [Full Text] [Related]

  • 3. Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
    Robinson FL, Niesman IR, Beiswenger KK, Dixon JE.
    Proc Natl Acad Sci U S A; 2008 Mar 25; 105(12):4916-21. PubMed ID: 18349142
    [Abstract] [Full Text] [Related]

  • 4. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
    Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.
    Am J Hum Genet; 2003 May 25; 72(5):1141-53. PubMed ID: 12687498
    [Abstract] [Full Text] [Related]

  • 5. Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
    Previtali SC, Quattrini A, Bolino A.
    Expert Rev Mol Med; 2007 Sep 20; 9(25):1-16. PubMed ID: 17880751
    [Abstract] [Full Text] [Related]

  • 6. Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
    Tersar K, Boentert M, Berger P, Bonneick S, Wessig C, Toyka KV, Young P, Suter U.
    Hum Mol Genet; 2007 Dec 15; 16(24):2991-3001. PubMed ID: 17855448
    [Abstract] [Full Text] [Related]

  • 7. An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
    Robinson DC, Mammel AE, Logan AM, Larson AA, Schmidt EJ, Condon AF, Robinson FL.
    ASN Neuro; 2018 Dec 15; 10():1759091418803282. PubMed ID: 30419760
    [Abstract] [Full Text] [Related]

  • 8. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
    Berger P, Bonneick S, Willi S, Wymann M, Suter U.
    Hum Mol Genet; 2002 Jun 15; 11(13):1569-79. PubMed ID: 12045210
    [Abstract] [Full Text] [Related]

  • 9. The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling.
    Berger P, Tersar K, Ballmer-Hofer K, Suter U.
    J Cell Mol Med; 2011 Feb 15; 15(2):307-15. PubMed ID: 19912440
    [Abstract] [Full Text] [Related]

  • 10. Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.
    Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U.
    Hum Mol Genet; 2006 Feb 15; 15(4):569-79. PubMed ID: 16399794
    [Abstract] [Full Text] [Related]

  • 11. Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.
    Mammel AE, Delgado KC, Chin AL, Condon AF, Hill JQ, Aicher SA, Wang Y, Fedorov LM, Robinson FL.
    Hum Mol Genet; 2022 Apr 22; 31(8):1216-1229. PubMed ID: 34718573
    [Abstract] [Full Text] [Related]

  • 12. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
    Kim SA, Taylor GS, Torgersen KM, Dixon JE.
    J Biol Chem; 2002 Feb 08; 277(6):4526-31. PubMed ID: 11733541
    [Abstract] [Full Text] [Related]

  • 13. Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module.
    Berger P, Schaffitzel C, Berger I, Ban N, Suter U.
    Proc Natl Acad Sci U S A; 2003 Oct 14; 100(21):12177-82. PubMed ID: 14530412
    [Abstract] [Full Text] [Related]

  • 14. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
    Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.
    Nat Genet; 2000 May 14; 25(1):17-9. PubMed ID: 10802647
    [Abstract] [Full Text] [Related]

  • 15. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
    Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K.
    Hum Mol Genet; 2003 Feb 01; 12(3):349-56. PubMed ID: 12554688
    [Abstract] [Full Text] [Related]

  • 16. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
    Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR.
    Neurogenetics; 2001 Mar 01; 3(2):107-9. PubMed ID: 11354824
    [Abstract] [Full Text] [Related]

  • 17. Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
    Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML, Wrabetz L, Ravazzolo R, Monaco AP.
    Gene; 2002 Jan 23; 283(1-2):17-26. PubMed ID: 11867209
    [Abstract] [Full Text] [Related]

  • 18. Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.
    Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA.
    Mol Cell; 2003 Dec 23; 12(6):1391-402. PubMed ID: 14690594
    [Abstract] [Full Text] [Related]

  • 19. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
    Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A.
    PLoS Genet; 2011 Oct 23; 7(10):e1002319. PubMed ID: 22028665
    [Abstract] [Full Text] [Related]

  • 20. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
    Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.
    Ann Neurol; 2019 Jul 23; 86(1):55-67. PubMed ID: 31070812
    [Abstract] [Full Text] [Related]

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