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Journal Abstract Search


289 related items for PubMed ID: 27466180

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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 14; 7(10):e1002319. PubMed ID: 22028665
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 Nov 22; 10():1759091418803282. PubMed ID: 30419760
    [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. 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. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.
    Niemann A, Berger P, Suter U.
    Neuromolecular Med; 2006 Jun 15; 8(1-2):217-42. PubMed ID: 16775378
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. 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]

  • 13. Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.
    Bolis A, Zordan P, Coviello S, Bolino A.
    Mol Neurobiol; 2007 Jun 20; 35(3):308-16. PubMed ID: 17917119
    [Abstract] [Full Text] [Related]

  • 14. Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.
    Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A.
    Hum Mol Genet; 2014 Oct 01; 23(19):5171-87. PubMed ID: 24833716
    [Abstract] [Full Text] [Related]

  • 15. Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination.
    Bolis A, Coviello S, Visigalli I, Taveggia C, Bachi A, Chishti AH, Hanada T, Quattrini A, Previtali SC, Biffi A, Bolino A.
    J Neurosci; 2009 Jul 08; 29(27):8858-70. PubMed ID: 19587293
    [Abstract] [Full Text] [Related]

  • 16. Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.
    Lopez-Anido C, Poitelon Y, Gopinath C, Moran JJ, Ma KH, Law WD, Antonellis A, Feltri ML, Svaren J.
    Hum Mol Genet; 2016 Jul 15; 25(14):3055-3069. PubMed ID: 27288457
    [Abstract] [Full Text] [Related]

  • 17. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).
    Berger P, Niemann A, Suter U.
    Glia; 2006 Sep 15; 54(4):243-57. PubMed ID: 16856148
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. 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]


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