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206 related items for PubMed ID: 20826437

  • 1. SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
    Stendel C, Roos A, Kleine H, Arnaud E, Ozçelik M, Sidiropoulos PN, Zenker J, Schüpfer F, Lehmann U, Sobota RM, Litchfield DW, Lüscher B, Chrast R, Suter U, Senderek J.
    Brain; 2010 Aug; 133(Pt 8):2462-74. PubMed ID: 20826437
    [Abstract] [Full Text] [Related]

  • 2. Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.
    Vijay S, Chiu M, Dacks JB, Roberts RC.
    Biochim Biophys Acta; 2016 Jul; 1862(7):1279-90. PubMed ID: 27068304
    [Abstract] [Full Text] [Related]

  • 3. Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
    Schiza N, Georgiou E, Kagiava A, Médard JJ, Richter J, Tryfonos C, Sargiannidou I, Heslegrave AJ, Rossor AM, Zetterberg H, Reilly MM, Christodoulou C, Chrast R, Kleopa KA.
    Brain; 2019 May 01; 142(5):1227-1241. PubMed ID: 30907403
    [Abstract] [Full Text] [Related]

  • 4. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.
    Roberts RC, Peden AA, Buss F, Bright NA, Latouche M, Reilly MM, Kendrick-Jones J, Luzio JP.
    Hum Mol Genet; 2010 Mar 15; 19(6):1009-18. PubMed ID: 20028792
    [Abstract] [Full Text] [Related]

  • 5. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
    Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R.
    Proc Natl Acad Sci U S A; 2009 Oct 13; 106(41):17528-33. PubMed ID: 19805030
    [Abstract] [Full Text] [Related]

  • 6. Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
    Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R.
    Glia; 2013 Jul 13; 61(7):1041-51. PubMed ID: 23553667
    [Abstract] [Full Text] [Related]

  • 7. Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease.
    McLean JW, Wilson JA, Tian T, Watson JA, VanHart M, Bean AJ, Scherer SS, Crossman DK, Ubogu E, Wilson SM.
    J Neurosci; 2022 Jun 22; 42(25):5085-5101. PubMed ID: 35589390
    [Abstract] [Full Text] [Related]

  • 8. Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.
    Horn M, Baumann R, Pereira JA, Sidiropoulos PN, Somandin C, Welzl H, Stendel C, Lühmann T, Wessig C, Toyka KV, Relvas JB, Senderek J, Suter U.
    Brain; 2012 Dec 22; 135(Pt 12):3567-83. PubMed ID: 23171661
    [Abstract] [Full Text] [Related]

  • 9. Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination.
    Sidiropoulos PN, Miehe M, Bock T, Tinelli E, Oertli CI, Kuner R, Meijer D, Wollscheid B, Niemann A, Suter U.
    Brain; 2012 May 22; 135(Pt 5):1395-411. PubMed ID: 22451505
    [Abstract] [Full Text] [Related]

  • 10. Ablation of Perk in Schwann Cells Improves Myelination in the S63del Charcot-Marie-Tooth 1B Mouse.
    Sidoli M, Musner N, Silvestri N, Ungaro D, D'Antonio M, Cavener DR, Feltri ML, Wrabetz L.
    J Neurosci; 2016 Nov 02; 36(44):11350-11361. PubMed ID: 27807175
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 01; 26(2):323-31. PubMed ID: 17336078
    [Abstract] [Full Text] [Related]

  • 13. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
    Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G.
    N Engl J Med; 2011 Dec 22; 365(25):2377-88. PubMed ID: 22187985
    [Abstract] [Full Text] [Related]

  • 14. Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves.
    Okuda T, Higashi Y, Kokame K, Tanaka C, Kondoh H, Miyata T.
    Mol Cell Biol; 2004 May 22; 24(9):3949-56. PubMed ID: 15082788
    [Abstract] [Full Text] [Related]

  • 15. Enhancement of Schwann cell myelin formation by K252a in the Trembler-J mouse dorsal root ganglion explant culture.
    Liu N, Varma S, Shooter EM, Tolwani RJ.
    J Neurosci Res; 2005 Feb 01; 79(3):310-7. PubMed ID: 15605381
    [Abstract] [Full Text] [Related]

  • 16. The SNARE protein SNAP-29 interacts with the GTPase Rab3A: Implications for membrane trafficking in myelinating glia.
    Schardt A, Brinkmann BG, Mitkovski M, Sereda MW, Werner HB, Nave KA.
    J Neurosci Res; 2009 Nov 15; 87(15):3465-79. PubMed ID: 19170188
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Perk Ablation Ameliorates Myelination in S63del-Charcot-Marie-Tooth 1B Neuropathy.
    Musner N, Sidoli M, Zambroni D, Del Carro U, Ungaro D, D'Antonio M, Feltri ML, Wrabetz L.
    ASN Neuro; 2016 Sep 15; 8(2):. PubMed ID: 27095827
    [Abstract] [Full Text] [Related]

  • 19. The alpha-chemokine CXCL14 is up-regulated in the sciatic nerve of a mouse model of Charcot-Marie-Tooth disease type 1A and alters myelin gene expression in cultured Schwann cells.
    Barbaria EM, Kohl B, Buhren BA, Hasenpusch-Theil K, Kruse F, Küry P, Martini R, Müller HW.
    Neurobiol Dis; 2009 Mar 15; 33(3):448-58. PubMed ID: 19111616
    [Abstract] [Full Text] [Related]

  • 20. 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]

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