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Journal Abstract Search

211 related items for PubMed ID: 12045210

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.
    Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali SC, Malaguti M, Morana P, Del Carro U, Feltri ML, Quattrini A, Wrabetz L, Bolino A.
    J Neurosci; 2005 Sep 14; 25(37):8567-77. PubMed ID: 16162938
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
    Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A.
    Hum Mol Genet; 2003 Jul 15; 12(14):1713-23. PubMed ID: 12837694
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 7(10):e1002319. PubMed ID: 22028665
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 72(5):1141-53. PubMed ID: 12687498
    [Abstract] [Full Text] [Related]

  • 10. SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
    Fogarty EA, Brewer MH, Rodriguez-Molina JF, Law WD, Ma KH, Steinberg NM, Svaren J, Antonellis A.
    Hum Mol Genet; 2016 Sep 15; 25(18):3925-3936. PubMed ID: 27466180
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 25(1):17-9. PubMed ID: 10802647
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 15; 12(6):1391-402. PubMed ID: 14690594
    [Abstract] [Full Text] [Related]

  • 14. Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
    Murakami T, Kutoku Y, Nishimura H, Hayashi M, Abe A, Hayasaka K, Sunada Y.
    J Neurol Sci; 2013 Nov 15; 334(1-2):176-9. PubMed ID: 23962696
    [Abstract] [Full Text] [Related]

  • 15. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
    Bolino A, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, Amadio S, Del Carro U, Mruk DD, Feltri ML, Cheng CY, Quattrini A, Wrabetz L.
    J Cell Biol; 2004 Nov 22; 167(4):711-21. PubMed ID: 15557122
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
    Halperin D, Sapir A, Wormser O, Drabkin M, Yogev Y, Dolgin V, Flusser H, Birk OS.
    Neurogenetics; 2020 Oct 23; 21(4):301-304. PubMed ID: 32488727
    [Abstract] [Full Text] [Related]

  • 18. 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 23; 26(2):323-31. PubMed ID: 17336078
    [Abstract] [Full Text] [Related]

  • 19. 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 23; 3(2):107-9. PubMed ID: 11354824
    [Abstract] [Full Text] [Related]

  • 20. Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
    Guerrero-Valero M, Grandi F, Cipriani S, Alberizzi V, Di Guardo R, Chicanne G, Sawade L, Bianchi F, Del Carro U, De Curtis I, Pareyson D, Parman Y, Schenone A, Haucke V, Payrastre B, Bolino A.
    Proc Natl Acad Sci U S A; 2021 Mar 09; 118(10):. PubMed ID: 33653949
    [Abstract] [Full Text] [Related]

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