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175 related items for PubMed ID: 16399794

  • 1. 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]

  • 2. 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]

  • 3. Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.
    Kirfel J, Senderek J, Moser M, Röper A, Stendel C, Bergmann C, Zerres K, Buettner R.
    Gene Expr Patterns; 2006 Oct 15; 6(8):978-84. PubMed ID: 16750429
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan 15; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.
    Goryunov D, Nightingale A, Bornfleth L, Leung C, Liem RK.
    J Neurochem; 2008 Mar 20; 104(6):1536-52. PubMed ID: 17973976
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 01; 15(2):307-15. PubMed ID: 19912440
    [Abstract] [Full Text] [Related]

  • 12. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).
    Berger P, Niemann A, Suter U.
    Glia; 2006 Sep 01; 54(4):243-57. PubMed ID: 16856148
    [Abstract] [Full Text] [Related]

  • 13. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.
    Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE.
    Proc Natl Acad Sci U S A; 2003 Apr 15; 100(8):4492-7. PubMed ID: 12668758
    [Abstract] [Full Text] [Related]

  • 14. The structure and regulation of myotubularin phosphatases.
    Begley MJ, Dixon JE.
    Curr Opin Struct Biol; 2005 Dec 15; 15(6):614-20. PubMed ID: 16289848
    [Abstract] [Full Text] [Related]

  • 15. Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
    Chojnowski A, Ravisé N, Bachelin C, Depienne C, Ruberg M, Brugg B, Laporte J, Baron-Van Evercooren A, LeGuern E.
    Neurobiol Dis; 2007 May 15; 26(2):323-31. PubMed ID: 17336078
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. 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]

  • 19. [Autosomal recessive forms of Charcot-Marie-Tooth disease].
    Vallat JM, Grid D, Magdelaine C, Sturtz F, Levy N, Tazir M.
    Bull Acad Natl Med; 2005 Jan 15; 189(1):55-68; discussion 68-9. PubMed ID: 16119880
    [Abstract] [Full Text] [Related]

  • 20. Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.
    Negrão L, Almendra L, Ribeiro J, Matos A, Geraldo A, Pinto-Basto J.
    Acta Myol; 2014 Dec 15; 33(3):144-8. PubMed ID: 25873783
    [Abstract] [Full Text] [Related]

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