Cited by 84

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Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C

Roberts, Rhys C., Peden, Andrew A., Buss, Folma, Bright, Nicholas A., Latouche, Morwena, Reilly, Mary M., Kendrick-Jones, John, Luzio, J. Paul·2010·Human Molecular Genetics

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Research works printed but not linked: 23

  1. Martyn, 1997, Epidemiology of peripheral neuropathy, J. Neurol. Neurosurg. Psychiatry, 62, 310, 10.1136/jnnp.62.4.310 · DOI
  2. Reilly, 2007, Sorting out the inherited neuropathies, Pract. Neurol., 7, 93
  3. Niemann, 2006, Pathomechanisms of mutant proteins in Charcot–Marie–Tooth disease, Neuromolecular Med., 8, 217, 10.1385/NMM:8:1-2:217 · DOI
  4. Scherer, 2008, Molecular mechanisms of inherited demyelinating neuropathies, Glia, 56, 1578, 10.1002/glia.20751 · DOI
  5. Azzedine, 2006, Spine deformities in Charcot–Marie–Tooth 4C caused by SH3TC2 gene mutations, Neurology, 67, 602, 10.1212/01.wnl.0000230225.19797.93 · DOI
  6. Houlden, 2009, The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy, Neuromuscul. Disord., 19, 264, 10.1016/j.nmd.2009.01.006 · DOI
  7. Gabreels-Festen, 1999, Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot–Marie–Tooth disease) with a gene locus on chromosome 5q23-q33, J. Neurol. Neurosurg. Psychiatry, 66, 569, 10.1136/jnnp.66.5.569 · DOI
  8. Senderek, 2003, Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot–Marie–Tooth type 4C neuropathy, Am. J. Hum. Genet., 73, 1106, 10.1086/379525 · DOI · Paper page
  9. Lupo, 2009, Missense mutations in the Sh3tc2 protein causing Charcot–Marie–Tooth Disease Type 4c affect its localization in the plasma membrane and endocytic pathway, Hum. Mol. Genet., 18, 4603, 10.1093/hmg/ddp427 · DOI
  10. Arnaud, 2009, SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system, Proc. Natl Acad. Sci. USA, 106, 17528, 10.1073/pnas.0905523106 · DOI · Paper page
  11. Grant, 2009, Pathways and mechanisms of endocytic recycling, Nat. Rev. Mol. Cell. Biol., 10, 597, 10.1038/nrm2755 · DOI · Paper page
  12. Tarbutton, 2005, Class I FIPs, Rab11-binding proteins that regulate endocytic sorting and recycling, Methods Enzymol., 403, 512, 10.1016/S0076-6879(05)03045-4 · DOI
  13. Junutula, 2004, Molecular characterization of Rab11 interactions with members of the family of Rab11-interacting proteins, J. Biol. Chem., 279, 33430, 10.1074/jbc.M404633200 · DOI
  14. Peden, 2004, The RCP-Rab11 complex regulates endocytic protein sorting, Mol. Biol. Cell., 15, 3530, 10.1091/mbc.E03-12-0918 · DOI
  15. Howell, 2006, Cell biology of membrane trafficking in human disease, Int. Rev. Cytol., 252, 1, 10.1016/S0074-7696(06)52005-4 · DOI
  16. Olkkonen, 2000, Genetic defects of intracellular-membrane transport, N. Engl. J. Med., 343, 1095, 10.1056/NEJM200010123431507 · DOI
  17. Prekeris, 2001, Identification of a novel Rab11/25 binding domain present in Eferin and Rip proteins, J. Biol. Chem., 276, 38966, 10.1074/jbc.M106133200 · DOI · Paper page
  18. Wu, 2005, Sec15 interacts with Rab11 via a novel domain and affects Rab11 localization in vivo, Nat. Struct. Mol. Biol., 12, 879, 10.1038/nsmb987 · DOI
  19. Westlake, 2007, Identification of Rab11 as a small GTPase binding protein for the Evi5 oncogene, Proc. Natl Acad. Sci. USA, 104, 1236, 10.1073/pnas.0610500104 · DOI · Paper page
  20. Eggers, 2009, D-AKAP2 interacts with Rab4 and Rab11 through its RGS domains and regulates transferrin receptor recycling, J. Biol. Chem., 284, 32869, 10.1074/jbc.M109.022582 · DOI
  21. Morgan, 1991, The effects of cAMP on differentiation of cultured Schwann cells: progression from an early phenotype (04+) to a myelin phenotype (P0+, GFAP-, N-CAM-, NGF-receptor-) depends on growth inhibition, J. Cell. Biol., 112, 457, 10.1083/jcb.112.3.457 · DOI
  22. Liou, 1996, Improving structural integrity of cryosections for immunogold labeling, Histochem. Cell Biol., 106, 41, 10.1007/BF02473201 · DOI
  23. Slot, 1991, Immuno-localization of the insulin regulatable glucose transporter in brown adipose tissue of the rat, J. Cell. Biol., 113, 123, 10.1083/jcb.113.1.123 · DOI

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Metadata

Authors
Roberts, R. C., Peden, A. A., Buss, F., Bright, N. A., Latouche, M., Reilly, M. M., Kendrick-Jones, J., & Luzio, J. P.
Venue
Human Molecular Genetics
Published
2009-12-22
Volume
19
Issue
6
Pages
1009-1018
ISSN
  • 1460-2083
  • 0964-6906
Cited by
84
References
1
Language
en

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