Disease mechanisms in inherited neuropathies

Nature Reviews Neuroscience

Volumn 4, Issue 9, 2003, Pages 714-726

  Suter, Ueli ^a   Scherer, Steven S ^b  

^a ETH ZURICH   (Switzerland)

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

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MUTATION; NEUROPATHY; PATHOLOGY; REVIEW; SCHWANN CELL; ADULT; BRAIN NERVE CELL; CYTOSKELETON; DEMYELINATING NEUROPATHY; DOMINANT INHERITANCE; GENE DISRUPTION; GENE EXPRESSION; GENE MUTATION; NERVE FIBER TRANSPORT; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

ANIMALS; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MUTATION; SCHWANN CELLS;

EID: 0141833983     PISSN: 1471003X     EISSN: 14710048     Source Type: Journal    
DOI: 10.1038/nrn1196     Document Type: Article

References (147)

1. Lupski, J. R. & Garcia, C. A. in The Metabolic & Molecular Basis oflnherlted Disease (eds Scriver, C. R. et al.) 5759-5788 (McGraw-Hill, New York, 2001).
2. Berger, P, Young, P. & Suter, U. Molecular cell biology of Charcot-Marie-Tooth disease. Neurogenetics 4, 1-15 (2002).
3. Kleopa, K. A. & Scherer, S. S. Inherited Neuropathies. Neurol. Clin. 20, 679-709 (2002).
4. Harding, A. E. & Thomas, P. K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103, 259-280 (1980).
5. Dyck, P. J., Chance, P., Lebo, R. & Carney, J. A. in Peripheral Neuropathy (eds Dyck, P. J. et al.) 1094-1136 (W. B. Saunders, Philadelphia, 1993).
6. Aguayo, A. J., Attiwell, M., Trecarten, J., Perkins, C. S. & Bray, C. M. Abnormal myelination in transplanted Trembler mouse Schwann cells. Nature 265, 73-75 (1977).
7. Chance, P F. et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143-151 (1993).
8. Windebank, T. in Peripheral Neuropathy (eds Dyck, P. J. et al.) 1137-1148 (W. B. Saunders, Philadelphia, 1993).
9. Adlkofer, K. et al. Heterozygous peripheral myelin protein 22- deficient mice are affected by a progressive demyelinating peripheral neuropathy. J. Neuroscl. 17, 4662-4671 (1997).
10. Birouk, N. et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120, 813-823 (1997).
11. Thomas, P. K. et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120, 465-478 (1997).
12. Krajewski, K. M. et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease. Brain 123, 1516-1527 (2000).
13. Fabrizi, G. M. et al. Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases. Muscle Nerve 21, 869-877 (1998).
14. Adlkofer, K. et al. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nature Genet. 11, 274-280 (1995).
15. Vallat, J. M. et al. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann. Neurol. 39, 813-817 (1996).
16. Tobler, A. R. et al. Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction. J. Neuroscl. 19, 2027-2036 (1999).
17. D'Urso, D., Ehrhardt, P & Muller, H. W. Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin. J. Neuroscl. 19, 3396-3403 (1999).
18. Tobler, A. R., Liu, N., Mueller, L. & Shooter, E. M. Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22. Proc. Natl Acad Scl. USA 99, 483-488 (2002).
19. Martini, R., Zielasek, J., Toyka, K. V, Giese, K. P & Schachner, M. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nature Genet. 11, 281-285 (1995).
20. Sereda, M. et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16, 1049-1060 (1996).
21. Chies, R. et al. Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway in cells overexpressing the tetraspan protein Gas3/PMP22. J. Cell Scl. 116, 987-99 (2003).
22. Simons, M. et al. Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease. J. Cell Biol. 157, 327-336 (2002).
23. Hasse, B., Bosse, F. & Muller, H. W. Proteins of peripheral myelin are associated with glycosphingolipid/cholesterol- enriched membranes. J. Neuroscl. Res. 69, 227-232 (2002).
24. Erne, B., Sansano, S., Frank, M. & Schaeren-Wiemers, N. Rafts in adult peripheral nerve myelin contain major structural myelin proteins and myelin and lymphocyte protein (MAL) and CD59 as specific markers. J. Neurochem. 82, 550-562 (2002).
25. Zoidl, G., Blass-Kampmann, S., D'Urso, D., Schmalenback, C. & Muller, H. W. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. EMBO J. 14, 1122-1128 (1995).
26. Hanemann, C. O. & Muller, H. W. Pathogenesis of Charcot-Marie-Tooth IA (CMTIA) neuropathy. Trends Neuroscl. 21, 282-286 (1998).
27. Fabbretti, E., Edomi, P, Brancolini, C. & Schneider, C. Apoptotic phenotype induced by overexpression of wild- type gas3/PMP22 its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev. 9, 1846-1856 (1995).
28. Brancolini, C. et al. Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22. Mol. Biol. Cell 10, 2441-2459 (1999).
29. Sancho, S., Young, P. & Suter, U. Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A. Brain124, 2177-2187 (2001).
30. Wilson, H. L., Wilson, S. A., Surprenant, A. & North, R. A. Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus. J. Biol. Chem. 277, 34017-23 (2002).
31. Stevens, B. & Fields, R. D. Response of Schwann cells to action potentials in development. Science 287, 2267-2271 (2000).
32. Giese, K. P., Martini, R., Lemke, G., Soriano, P. & Schachner, M. Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 71, 565-576 (1992).
33. Montag, D. et al. Mice deficient for the myelin-associated glycoprotein show subtle abnormalities in myelin. Neuron 13, 229-246 (1994).
34. Niemann, S., Sereda, M. W., Suter, U., Griffiths, I. R. & Nave, K. A. Uncoupling of myelin assembly and Schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22. J. Neuroscl. 20, 4120-4128 (2000).
35. Taylor, V. & Suter, U. Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family. Gene 175, 115-120 (1996).
36. Wadehra, M., Iyer, R., Goodglick, L. & Braun, J. The tetraspan protein epithelial membrane protein-2 interacts with p1 integrins and regulates adhesion. J. Biol. Chem. 277, 41094-100 (2002).
37. Nave, K.-A. & Boespflug-Tanguy, O. Developmental defects of myelin formation: from X-linked mutations to human dysmyelinating diseases. Neurosclentlst 2, 33-43 (1996).
38. Gudz, T. I., Schneider, T. E., Haas, T. A. & Macklin, W. B. Myelin proteolipid protein forms a complex with integrins and may participate in integrin receptor signaling in oligodendrocytes. J. Neuroscl. 22, 7398-7407 (2002).
39. Feltri, M. L. et al. Conditional disruption of (31 integrin in Schwann cells impedes interactions with axons. J. Cell Biol. 156, 199-209 (2002).
40. Misko, A., Ferguson, T. & Notterpek, L. Matrix metalloproteinase mediated degradation of basement membrane proteins in Trembler J neuropathy nerves. J. Neurochem. 83, 885-894 (2002).
41. 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. Neuroscl. Res. 49, 671-680 (1997).
42. Naef, R., Adlkofer, K., Lescher, B. & Suter, U. Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol. Cell. Neuroscl. 9, 13-25 (1997).
43. Naef, R. & Suter, U. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neuroblol. Dls. 6, 1-14 (1999).
44. D'Urso, D., Schmalenbach, C., Zoidl, G., Prior, R. & Muller, H. W. Studies on the effects of altered PMP22 expression during myelination in vitro. J. Neuroscl. Res. 48, 31-42 (1997).
45. Colby, J. et al. PMP22 carrying the Trembleror Trembler-J mutation is intracellularly retained in myelinating Schwann cells. Neuroblol. Dls. 7, 561-573 (2000).
46. Dickson, K. M. et al. Association of calnexin with mutant peripheral myelin protein-22 ex vlvo: A basis for 'gain-of- function' ER diseases. Proc. Natl Acad. Scl. USA 99, 9852-9857 (2002).
47. Isaacs, A. M. et al. Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. Mol. Cell. Neuroscl. 21, 114-125 (2002).
48. Pareek, S. et al. Neurons promote the translocation of peripheral myelin protein 22 into myelin. J. Neuroscl. 17, 7754-7762 (1997).
49. Southwood, C. M., Garbern, J., Jiang, W. & Gow, A. The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 36, 585-596 (2002).
50. Denzel, A. et al. Early postnatal death and motor disorders in mice congenitally deficient in calnexin expression. Mol. Cell. Biol. 22, 7398-404 (2002).
51. Notterpek, L., Shooter, E. M. & Snipes, G. J. Upregulation of the endosomal-lysosomal pathway in the Trembler-J neuropathy. J. Neurosci. 17, 4190-4200 (1997).
52. Notterpek, L., Ryan, M. C., Tobler, A. R. & Shooter, E. M. PMP22 accumulation in aggresomes: implications for CMT1A pathology. Neurobiol. Dis. 6, 450-460 (1999).
53. Ryan, M. C., Shooter, E. M. & Notterpek, L. Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations. Neurobiol. Dis. 10, 109-118 (2002).
54. Gamp, A. C. et al. LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice. Hum. Mol. Genet. 12, 631-46 (2003).
55. Lemke, G. & Axel, R. Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 40, 501-508 (1985).
56. 0, the major structural protein of peripheral nerve myelin. Neuron 17, 435-449 (1996).
57. Martini, R., Mohajeri, M. H., Kasper, S., Giese, K. P. & Schachner, M. Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin. J. Neurosci. 15, 4488-4495 (1995).
58. D'Urso, D. et al. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 4, 449-460 (1990).
59. Filbin, M. T, Walsh, F. S., Trapp, B. D., Pizzey, J. A. & Tennekoon, G. I. Role of P0 protein as a homophilic adhesion molecule. Nature 344, 871-872 (1990).
60. Xu, W. B. et al. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. J. Cell Biol. 155, 439-445 (2001).
61. Wrabetz, L. et al. P0 glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. J. Cell Biol. 148, 1021-1033 (2000).
62. Yin, X. et al. Schwann cell myelination requires timely and precise targeting of P0 protein. J. Cell Biol. 148, 1009-1020 (2000).
63. Previtali, S. C. et al. Epitope-tagged P0 glycoprotein causes Charcot—Marie-Tooth-like neuropathy in transgenic mice. J. Cell Biol. 151, 1035-1045 (2000).
64. Willecke, K. et al. Structural and functional diversity of connexin genes in the mouse and human genome. Biol. Chem. 383, 725-737 (2002).
65. White, T. W. & Paul, D. L. Genetic diseases and gene knockouts reveal diverse connexin functions. Annu. Rev. Physiol. 61, 283-310 (1999).
66. Bergoffen, J. et al. Connexin mutations in X-linked Charcot- Marie-Tooth disease. Science 262, 2039-2042 (1993).
67. Anzini, P. et al. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J. Neurosci. 17, 4545-4561 (1997).
68. Scherer, S. S. et al. Connexin32-null mice develop a demyelinating peripheral neuropathy. Glia 24, 8-20 (1998).
69. Balice-Gordon, R. J., Bone, L. J. & Scherer, S. S. Functional gap junctions in the Schwann cell myelin sheath. J. Cell Blol. 142, 1095-1104 (1998).
70. Altevogt, B. M., Kleopa, K. A., Postma, F. R., Scherer, S. S. & Paul, D. L. Cx29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems. J. Neurosci. 22, 6458-6470 (2002).
71. Li, X. et al. Connexin29 expression, immunocytochemistry and freeze-fracture replica immunogold labelling (FRIL) in sciatic nerve. Eur. J. Neurosci. 16, 795-806 (2002).
72. Lewis, R. A., Sumner, A. J. & Shy, M. E. Electrophysiological features of inherited demyelinating neuropathies: a reappraisal in the era of molecular diagnosis. Muscle Nerve 23, 1472-1487 (2000).
73. Hahn, A., Ainsworth, P J., Bolton, C. F., Bilbao, J. M. & Vallat, J.-M. Pathological findings in the X-linked form of Charcot- Marie-Tooth disease: a morphometric and ultrastructural analysis. Acta Neuropathol. 101, 129-139 (2001).
74. Odermatt, B. et al. Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocyte expression of Cx47 and display vacuolized myelin in the CNS. J. Neurosci. 23, 4549-4559 (2003).
75. Menichella, D. M., Goodenough, D. A., Sirkowski, E., Scherer, S. S. & Paul, D. L. Connexins are critical for normal myelination in the central nervous system. J. Neurosci. 23, 5963-5973 (2003).
76. Kleopa, K. A., Yum, S. W. & Scherer, S. S. Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J. Neurosci. Res. 68, 522-534 (2002).
77. Yum, S. W., Kleopa, K. A., Shumas, S. & Scherer, S. S. Diverse trafficking abnormalities for connexin32 mutants causing CMTX. Neurobiol. Dls. 11, 43-52 (2002).
78. Bruzzone, R., T. W. White, S. S. Scherer, Fischbeck, K. H. & Paul, D. L. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 13, 1253-1260 (1994).
79. Rouan, F. et al. Trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. J. Cell Sci. 114, 2105-2113 (2001).
80. VanSlyke, J. K., Deschenes, S. M. & Musil, L. S. Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins. Mol. Blol. Cell 11, 1933-1946 (2000).
81. Abrams, C. K., Oh, S., Ri, Y & Bargiello, T. A. Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res. Rev. 32, 203-214 (2000).
82. Castro, C., Gomez-Hernandez, J. M., Silander, K. & Barrio, L. C. Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. J. Neurosci. 19, 3752-3760 (1999).
83. Tang, X., Fenton, M. J. & Amar, S. Identification and functional characterization of a novel binding site on TNF-a promoter. Proc. Natl Acad. Sci. USA 100, 4096-4101 (2003).
84. Moriwaki, Y et al. Mycobacterium bovls bacillus Calmette- Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF (PIG7) and estrogen-inducible gene, EET-1. J. Biol. Chem. 276, 23065-23076 (2001).
85. Liu, H., Nakagawa, T., Kanematsu, T., Uchida, T. & Tsuji, S. Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene. J. Neurochem. 72, 1781-1790 (1999).
86. Cuesta, A. et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nature Genet. 30, 22-25 (2002).
87. Baxter, R. V et al. Ganglioside-induced differentiation- associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet. 30, 21-22 (2002).
88. Berger, P, Bonneick, S., Willi, S., Wymann, M. & Suter, U. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum. Mol. Genet. 11, 1569-1579 (2002).
89. Bolino, A. et al. Molecular characterization and expression analysis of Mtmr2, a mouse homologue of MTMR2, the myotubularin-related-2 gene mutated in CMT4B. Gene 283, 17-26 (2002).
90. Laporte, J., Blondeau, F., Buj-Bello, A. & Mandel, J. L. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 17, 221-228 (2001).
91. Wishart, M. J. & Dixon, J. E. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Phosphatase and tensin homolog deleted on chromosome ten. Trends Cell Biol. 12, 579-585 (2002).
92. Schaletzky, J. et al. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. Curr. Biol. 13, 504-509 (2003).
93. Kim, S. A., Vacratsis, P O., Firestein, R., Cleary, M. L. & Dixon, J. E. Regulation of myotubularin-related (MTMR) 2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Proc. Natl Acad. Sci. USA 100, 4492-4497 (2003).
94. Nandukar, H. H. et al. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP Proc. Natl Acad. Sci. USA 100, 8660-8665 (2003).
95. Kalaydjieva, L. et al. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am. J. Hum. Genet. 67, 47-58 (2000).
96. Gillespie, C. S. et al. Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron 26, 523-531 (2000).
97. Gillespie, C. S., Sherman, D. L., Blair, G. E. & Brophy, P. J. Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment. Neuron 12, 497-508 (1994).
98. Scherer, S. S., Xu, Y.-T., Bannerman, P., Sherman, D. L. & Brophy, P. J. Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development. Development 121, 4265-4273 (1995).
99. Sherman, D. L., Fabrizi, C., Gillespie, C. S. & Brophy, P. J. Specific disruption of a Schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron 30, 677-687 (2001).
100. Rambukkana, A., Zanazzi, G., Tapinos, N. & Salzer, J. L. Contact-dependent demyelination by Mycobacterium leprae in the absence of immune cells. Science 296, 927-931 (2002).
101. Topilko, P et al. Krox-20 controls myelination in the peripheral neivous system. Nature 371, 796-799 (1994).
102. Warner, L. E. et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nature Genet. 18, 382-384 (1998).
103. Nagarajan, R. et al. EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron 30, 355-368 (2001).
104. Zorick, T. S., Syroid, D. E., Brown, A., Gridley, T. & Lemke, G. Krox-20 controls SCIP expression, cell cycle exit and susceptibility to apoptosis in developing myelinating Schwann cells. Development 126, 1397-1406 (1999).
105. Musso, M., Balestra, P., Taroni, F., Bellone, E. & Mandich, P. Different consequences of EGR2 mutants on the transactivation of human cx32 promoter. Neurobiol. Dis. 12, 89-95 (2003).
106. Warner, L. E., Svaren, J., Milbrandt, J. & Lupski, J. R. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum. Mol. Genet. 8, 1245-1251 (1999).
107. Peirano, R. I., Goerich, D. E., Riethmacher, D. & Wegner, M. Protein zero gene expression is regulated by the glial transcription factor Sox10. Mol. Cell. Biol. 20, 3198-3209 (2000).
108. 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 S0X10. Hum. Mol. Genet. 10, 2783-2795 (2001).
109. Paratore, C., Eichenberger, C., Suter, U. & Sommer, L. Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease. Hum. Mol. Genet. 11, 3075-3085 (2002).
110. Kim, J., Lo, L., Dormand, E. & Anderson, D. J. S0X10 maintains multipotency and inhibits neuronal differentiation of neural crest stem cells. Neuron 38, 17-31 (2003).
111. Stolt, C. C. et al. Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10. Genes Dev. 16, 165-170 (2002).
112. Britsch, S. et al. The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev. 15, 66-78 (2001).
113. Zhao, C. et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bp. Cell 105, 587-597 (2001).
114. Hirokawa, N. Kinesin and dynein superfamily proteins and the mechanism of organelle transport. Science 279, 519-526 (1998).
115. Mok, H. et al. Association of the kinesin superfamily motor protein KIF1Ba with postsynaptic density-95 (PSD-95), synapse-associated protein-97, and synaptic scaffolding molecule PSD-95/discs large/zona occludens-1 proteins. J. Neurosci. 22, 5253-5258 (2002).
116. Griffin, J. W. & Watson, D. F. Axonal transport in neurologic disease. Ann. Neurol. 23, 3-13 (1988).
117. Zhu, Q., Couillard-Despres, S. & Julien, J. P Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp. Neurol. 148, 299-316 (1997).
118. Lee, M. K., Marzalek, J. R. & Cleveland, D. W. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 13, 975-988 (1994).
119. Ohara, O., Gahara, Y, Miyake, T, Teraoka, H. & Kitamura, T. Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene. J. Cell Biol. 121, 387-395 (1993).
120. Brownlees, J. et al. Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum. Mol. Genet. 11, 2837-2844 (2002).
121. Perez-Olle, R., Leung, C. L. & Liem, R. K. H. Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation. J. Cell Sci. 115, 4937-4946 (2002).
122. Al-Chalabi, A. & Miller, C. C. Neurofilaments and neurological disease. Bioessays 25, 346-355 (2003).
123. Crosby, A. H. & Proukakis, C. Is the transportation highway the right road for hereditary spastic paraplegia? Am. J. Hum. Genet. 71, 1009-1016 (2002).
124. Reid, E. et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum. Genet. 71, 1189-1194 (2002).
125. Xia, C. H. et al. Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A. J. Cell Biol. 161, 55-66 (2003).
126. LaMonte, B. H. et al. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset porgressive degeneration. Neuron 34, 715-727 (2002).
127. Puls, I. et al. Mutant dynactin in motor neuron disease. Nature Genet. 33, 455-456 (2003).
128. Bomont, P et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nature Genet. 26, 370-374 (2000).
129. Ding, J. Q. et al. Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin. J. Cell Biol. 158, 427-433 (2002).
130. Auer-Grumbach, M. et al. Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch. Neurol. 60, 329-334 (2003).
131. Echard, A. et al. Interaction of a Golgi-associated kinesin-like protein with Rab6. Science 279, 580-585 (1998).
132. Cantalupo, G., Alifano, P., Roberti, V, Bruni, C. B. & Bucci, C. Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes. EMBO J. 20, 683-693 (2001).
133. Jordens, I. et al. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. Curr. Biol. 11, 1680-1685 (2001).
134. Verhoeven, K. et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth disease type 2B neuropathy. Am. J. Hum. Genet. 72 (2003).
135. Choudhury, A. et al. Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. J. Clin. Invest. 109, 1541-1550 (2002).
136. Ostlund, C. & Worman, H. J. Nuclear envelope proteins and neuromuscular diseases. Muscle Nerve 27, 393-406 (2003).
137. Eriksson, M. et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 429, 293-298 (2003).
138. Sullivan, T. et al. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J. Cell Blol. 147, 913-920 (1999).
139. Antonellis, A. et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72, 1293-1299 (2003).
140. Freist, W., Logan, D. T. & Gauss, D. H. Glycyl-tRNA synthetase. Biol. Chem. Hoppe Seyler 377, 343-56 (1996).
141. Martini, R. The effect of myelinating Schwann cells on axons. Muscle Nerve 24, 456-466 (2001).
142. Peles, E. & Salzer, J. L. Molecular domains of myelinated fibers. Curr. Opin. Neurobiol. 10, 558-565 (2000).
143. Lappe-Siefke, C. et al. Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination. Nature Genet. 33, 366-374 (2003).
144. Maurer, M. et al. Role of immune cells in animal models for inherited neuropathies: facts and visions. J. Anat. 200, 405-414 (2002).
145. Sancho, S., Magyar, J. P., Aguzzi, A. & Suter, U. Distal axonopathy in peripheral nerves of PMP22 mutant mice. Brain 122, 1563-1577 (1999).
146. Perea, J. et al. Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. Hum. Mol. Genet. 10, 1007-1018 (2001).
147. Smutation delays robust loss of motor and sensory axons in a genetic model for myelin- related axonopathy. J. Neurosci. 23, 2833-2839 (2003).