Neuropathies-Translating Causes into Treatments

From Neuroscience to Neurology: Neuroscience, Molecular Medicine, and the Therapeutic Transformation of Neurology

Volumn , Issue , 2004, Pages 405-418

  Massicotte, Christiane ^a   Scherer, Steven S ^b  

^a UNIVERSITY OF PENNSYLVANIA SCHOOL OF VETERINARY MEDICINE   (United States)

^b HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33745252651     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012738903-5/50025-4     Document Type: Chapter

References (76)

1. Abrams CK, Oh S, Ri Y, Bargiello TA Mutations in Connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res Rev 2000, 32:203-214.
2. Adlkofer K, Naef R, Suter U Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele. J Neurosci Res 1997, 49:671-680.
3. Altevogt BM, et al. Cx29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems. J Neurosci 2002, 22:6458-6470.
4. Balice-Gordon RJ, Bone LJ, Scherer SS Functional gap junctions in the Schwann cell myelin sheath. J Cell Biol 1998, 142:1095-1104.
5. Berger P, et al. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet 2002, 11:1569-1579.
6. Bibel M, Barde Y.-A. Neurotrophins: key regulators of cell fate and cell shape in the vertebrate nervous system. Genes Dev 1999, 14:2919-2937.
7. Boerkoel CF, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002, 51:190-201.
8. Bondurand N, et al. Human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet 2001, 10:2783-2795.
9. Bravo J, Heath JK Receptor recognition by gp130 cytokines. EMBO J 2000, 19:2399-2411.
10. Brownlees J, et al. Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum Mol Genet 2002, 11:2837-2844.
11. Calcutt NA, et al. Therapeutic efficacy of sonic hedgehog protein in experimental diabetic neuropathy. J Clin Invest 2003, 111:507-514.
12. Chattopadhyay M, et al. In vivo gene therapy for pyridoxine-induced neuropathy by herpes simplex virus-mediated gene transfer of neurotrophin-3. Ann Neurol 2002, 51:19-27.
13. Chen LE, et al. Recombinant human glial growth factor 2 (rhGGF 2) improves functional recovery of crushed peripheral nerve (a double-blind study). Neurochem Int 1998, 33:341-351.
14. Chtarto A, et al. Tetracycline-inducible transgene expression mediated by a single AAV vector. Gene Ther 2003, 10:84-94.
15. Colby J, et al. PMP22 carrying the Trembler or Trembler-J mutation is intracellularly retained in myelinating Schwann cells. Neurobiol Dis 2000, 7:561-573.
16. Coleman MP, Perry VH Axon pathology in neurological disease: a neglected therapeutic target. Trends Neurosci 2002, 25:532-537.
17. Dickson KM, et al. Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases. Proc Natl Acad Sci USA 2002, 99:9852-9857.
18. Ding JQ, et al. Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin. J Cell Biol 2002, 158:427-433.
19. Feltri ML, et al. Mitogen-expanded Schwann cells retain the capacity to myelinate regenerating axons after transplantation into rat sciatic nerve. Proc Natl Acad Sci USA 1992, 89:8827-8831.
20. Funakoshi H, et al. Targeted expression of a multifunctional chimeric neurotrophin in the lesioned sciatic nerve accelerates regeneration of sensory and motor axons. Proc Natl Acad Sci USA 1998, 95:5269-5274.
21. Gillespie CS, et al. Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron 2000, 26:523-531.
22. Glass JD, Culver DG, Levey AI, Nash NR Very early activation of m-calpain in peripheral nerve during Wallerian degeneration. J Neurol Sci 2002, 196:9-20.
23. Gravel C, Gotz R, Lorrain A, Sendtner M Adenoviral gene transfer of ciliary neurotrophic factor and brain derived neurotrophic factor leads to long-term survivla of axotomized motor neurons. Nat Med 1997, 3:765-770.
24. Griffin JW, Watson DF Axonal transport in neurologic disease. Ann Neurol 1988, 23:3-13.
25. Guénard V, et al. Effective gene transfer of lacZ and P0 into Schwann cells of P0-deficient mice. Glia 1999, 25:165-178.
26. Haase G, et al. Therapeutic benefit of ciliary neurotrophic factor in progressive motor neuronopathy depends on the route of delivery. Ann Neurol 1999, 45:296-304.
27. Jessen KR, Mirsky R Schwann cells and their precursors emerge as major regulators of nerve development. Trends Neurosci 1999, 22:402-410.
28. Kim SA, et al. Regulation of myotubularin-related (MTMR) 2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Proc Natl Acad Sci USA 2003, 100:4492-4497.
29. Kleopas KA, Scherer SS Inherited neuropathies. Neurol Clin North Am 2002, 20:679-709.
30. Koike H, et al. Enhanced angiogenesis and improvement of neuropathy by cotransfection of human hepatocyte growth factor and prostacyclin synthase gene. FASEB J 2003, 17:779-781.
31. LaMonte BH, et al. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 2002, 34:715-727.
32. Lee MK, Marzalek JR, Cleveland DW A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 1994, 13:975-988.
33. Lemke G Neuregulins in development. Mol Cell Neurosci 1996, 7:247-262.
34. Lesbordes J-C, et al. Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy. Hum Mol Genet 2003, 12:1233-1239.
35. Lupski JR, Garcia CA Charcot-Marie-Tooth peripheral neuropathies and related disorders. The metabolic & molecular basis of inherited disease 2001, 5759-5788. McGraw-Hill, New York. C.R. Scriver (Ed.).
36. Mack TGA, et al. Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene. Nat Neurosci 2001, 4:1199-1206.
37. Martini R Animal models for inherited peripheral neuropathies. J Anat 1997, 191:321-336.
38. Martini R The effect of myelinating Schwann cells on axons. Muscle Nerve 2001, 24:456-466.
39. Martini R, et al. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 1995, 11:281-285.
40. Maurer M, et al. Role of immune cells in animal models for inherited neuropathies: facts and visions. J Anat 2002, 200:405-414.
41. Menichella DM, et al. Connexins are critical for normal myelination in the central nervous system. J Neurosci 2003, 23:5963-5973.
42. Millecamps S, et al. Neuron-restrictive silencer elements mediate neuron specificity of adenoviral gene expression. Nat Biotechnol 2000, 17:865-869.
43. Nagarajan R, et al. EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron 2001, 30:355-368.
44. Odermatt B, et al. Connexin 47 (C×47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of C×47 and display vacuolized myelin in the CNS. J Neurosci 2003, 23:4549-4559.
45. Ohara O, et al. Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene. J Cell Biol 1993, 121:387-395.
46. Perez-Olle R, Leung CL, Liem RKH Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation. J Cell Sci 2002, 115:4937-4946.
47. Plun-Favreau H, et al. The ciliary neurotrophic factor receptor alpha component induces the secretion of and is required for functional responses to cardiotrophin-like cytokine. EMBO J 2001, 20:1692-1703.
48. Pradat PF, et al. Partial prevention of cisplatin-induced neuropathy by electroporation-mediated nonviral gene transfer. Hum Gene Ther 2001, 12:367-375.
49. Ralph GS, et al. Targeting of tetracycline-regulatable transgene expression specifically to neuronal and glial cell populations using adenoviral vectors. Mol Neurosci 2000, 11:2051-2055.
50. Rambukkana A, Zanazzi G, Tapinos N, Salzer JL Contact-dependent demyelination by Mycobacterium leprae in the absence of immune cells. Science 2002, 296:927-931.
51. Rosenthal A The GDNF protein family: gene ablation studies reveal what they really do and how. Neuron 1999, 22:201-217.
52. s mutation delays robust loss of motor and sensory axons in a genetic model for myelin-related axonopathy. J Neurosci 2003, 23:2833-2839.
53. Sancho S, Magyar JP, Aguzzi A, Suter U Distal axonopathy in peripheral nerves of PMP22 mutant mice. Brain 1999, 122:1563-1577.
54. Scherer SS, Arroyo EJ Recent progress on the molecular organization of myelinated axons. J Peripher Nerv Syst 2002, 7:1-12.
55. Scherer SS, Salzer J Axon-Schwann cell interactions in peripheral nerve degeneration and regeneration. Glial cell development 2001, 299-330. Oxford University Press, Oxford. K.R. Jessen, W.D. Richardson (Eds.).
56. Schratzberger P, et al. Reversal of experimental diabetic neuropathy by VEGF gene transfer. J Clin Invest 2001, 107:1083-1092.
57. Sendtner M, et al. Developmental motoneuron cell death and neurotrophic factors. Cell Tissue Res 2000, 301:71-84.
58. Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ Specific disruption of a Schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron 2001, 30:677-687.
59. Shy ME, et al. Towards the gene therapy of Charcot-Marie-Tooth disease type 1: an adenoviral vector can transfer lacZ into Schwann cells in culture and in sciatic nerve. Ann Neurol 1995, 38:429-436.
60. Sorensen J, et al. Gene transfer to Schwann cells after peripheral nerve injury: a delivery system for therapeutic agents. Ann Neurol 1998, 43:205-211.
61. Southwood CM, Garbern J, Jiang W, Gow A The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 2002, 36:585-596.
62. Sulaiman OAR, Gordon T Transforming growth factor-beta and forskolin attenuate the adverse effects of long-term Schwann cell denervation on peripheral nerve regeneration in vivo. Glia 2002, 37:206-218.
63. Suter U, Scherer SS Disease mechanisms in inherited neuropathies. Nat Neurosci Rev 2003, 4:714-726.
64. Terenghi G Peripheral nerve regeneration and neurotrophic factors. J Anat 1999, 194:1-14.
65. Tobler AR, Liu N, Mueller L, Shooter EM Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22. Proc Natl Acad Sci USA 2002, 99:483-488.
66. Wang MS, Davis AA, Culver DG, Glass JD Wld(S) mice are resistant to paclitaxel (Taxol) neuropathy. Ann Neurol 2002, 52:442-447.
67. Wang MS, et al. The Wld(S) protein protects against axonal degeneration: a model of gene therapy for peripheral neuropathy. Ann Neurol 2001, 50:773-779.
68. Wang MS, Wu Y, Culver DG, Glass JD Pathogenesis of axonal degeneration: Parallels between Wallerian degeneration and vincristine neuropathy. J Neuropathol Exp Neurol 2000, 59:599-606.
69. Warner LE, Svaren J, Milbrandt J, Lupski JR Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet 1999, 8:1245-1251.
70. Wrabetz L, et al. PO glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. J Cell Biol 2000, 148:1021-1033.
71. Xia CH, et al. Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A. J Cell Biol 2003, 161:55-66.
72. Xu WB, et al. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. J Cell Biol 2001, 155:439-445.
73. Xu Y, Sladky JT, Brown MJ Dose-dependent expression of neuronopathy after experimental pyridoxine intoxication. Neurology 1989, 39:1077-1083.
74. Yin X, et al. Schwann cell myelination requires timely and precise targeting of P0 protein. J Cell Biol 2000, 148:1009-1020.
75. Yum SW, Kleopa KA, Shumas S, Scherer SS Diverse trafficking abnormalities for connexin32 mutants causing CMTX. Neurobiol Dis 2002, 11:43-52.
76. Zhu Q, Couillard-Despres S, Julien JP Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp Neurol 1997, 148:299-316.