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212 related items for PubMed ID: 30419760

  • 1. 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; 10():1759091418803282. PubMed ID: 30419760
    [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. 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]

  • 4. 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]

  • 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. 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]

  • 8. Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.
    Bolis A, Zordan P, Coviello S, Bolino A.
    Mol Neurobiol; 2007 Jun 15; 35(3):308-16. PubMed ID: 17917119
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 09; 15(2):307-15. PubMed ID: 19912440
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. 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 14; 72(5):1141-53. PubMed ID: 12687498
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 15; 86(1):55-67. PubMed ID: 31070812
    [Abstract] [Full Text] [Related]

  • 16. Schwann cell-specific deletion of the endosomal PI 3-kinase Vps34 leads to delayed radial sorting of axons, arrested myelination, and abnormal ErbB2-ErbB3 tyrosine kinase signaling.
    Logan AM, Mammel AE, Robinson DC, Chin AL, Condon AF, Robinson FL.
    Glia; 2017 Sep 15; 65(9):1452-1470. PubMed ID: 28617998
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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]

  • 19. 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]

  • 20. 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]

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