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Journal Abstract Search

312 related items for PubMed ID: 22028665

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 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. Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.
    Winters JJ, Ferguson CJ, Lenk GM, Giger-Mateeva VI, Shrager P, Meisler MH, Giger RJ.
    J Neurosci; 2011 Nov 30; 31(48):17736-51. PubMed ID: 22131434
    [Abstract] [Full Text] [Related]

  • 6. Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
    Vaccari I, Carbone A, Previtali SC, Mironova YA, Alberizzi V, Noseda R, Rivellini C, Bianchi F, Del Carro U, D'Antonio M, Lenk GM, Wrabetz L, Giger RJ, Meisler MH, Bolino A.
    Hum Mol Genet; 2015 Jan 15; 24(2):383-96. PubMed ID: 25187576
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 15; 10():1759091418803282. PubMed ID: 30419760
    [Abstract] [Full Text] [Related]

  • 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
    [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. 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]

  • 12. 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]

  • 13. 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]

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  • 15. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
    Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH.
    Nature; 2007 Jul 05; 448(7149):68-72. PubMed ID: 17572665
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  • 17. 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 05; 26(2):323-31. PubMed ID: 17336078
    [Abstract] [Full Text] [Related]

  • 18. Protective role of the lipid phosphatase Fig4 in the adult nervous system.
    Mironova YA, Lin JP, Kalinski AL, Huffman LD, Lenk GM, Havton LA, Meisler MH, Giger RJ.
    Hum Mol Genet; 2018 Jul 15; 27(14):2443-2453. PubMed ID: 29688489
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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]

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