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Journal Abstract Search

165 related items for PubMed ID: 12837694

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  • 3. 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; 7(10):e1002319. PubMed ID: 22028665
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  • 4. 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
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  • 5. 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
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  • 6. 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
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  • 7. 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
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  • 8. 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
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  • 9. 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
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  • 10. 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
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  • 11. 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
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  • 12. 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
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  • 13. 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
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  • 14. 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
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  • 15. 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 09; 72(5):1141-53. PubMed ID: 12687498
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  • 16. Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.
    Bolis A, Zordan P, Coviello S, Bolino A.
    Mol Neurobiol; 2007 Jun 09; 35(3):308-16. PubMed ID: 17917119
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  • 17. 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 Jun 09; 10():1759091418803282. PubMed ID: 30419760
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  • 18. 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
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  • 19. An animal model for Charcot-Marie-Tooth disease type 4B1.
    Bonneick S, Boentert M, Berger P, Atanasoski S, Mantei N, Wessig C, Toyka KV, Young P, Suter U.
    Hum Mol Genet; 2005 Dec 01; 14(23):3685-95. PubMed ID: 16249189
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  • 20. 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 01; 21(4):301-304. PubMed ID: 32488727
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