PMP22 accumulation in aggresomes: Implications for CMT1A pathology

Neurobiology of Disease

Volumn 6, Issue 5, 1999, Pages 450-460

  Notterpek, Lucia ^a   Ryan, Mary C ^a   Tobler, Andreas R ^a   Shooter, Eric M ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Lactacystin; Neuropathy; Proteasome; Schwann cells; Ubiquitin

Indexed keywords

ANTIBODY; CELL MARKER; LACTACYSTIN; MYELIN PROTEIN; PROTEASOME; UBIQUITIN;

ANIMAL CELL; ARTICLE; CELL FUNCTION; CELL INCLUSION; CONTROLLED STUDY; ENZYME INHIBITION; GENE DELETION; GENE DUPLICATION; GENE LOCUS; NEWBORN; NONHUMAN; PATHOLOGY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN SYNTHESIS; RAT; SCHWANN CELL;

EID: 0032752558     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.1999.0274     Document Type: Article

References (36)

1. Alves-Rodrigues A., Gregori L., Figueiredo-Pereira M. E. Ubiquitin, cellular inclusions and their role in neurodegeneration. Trends Neurosci. 21:1998;516-520.
2. Archelos J. J., Roggenbuck K., Schneider-Schaulis J., Linington C., Toyka K. V., Hartung H. P. Production and characterization of monoclonal antibodies to the extracellular domain of P0. J. Neurosci. Res. 35:1993;46-53.
3. Bodwell J., Swiff F., Richardson J. Long duration electroporation for achieving high level expression of glucocorticoid receptors in mammalian cell lines. J. Steroid Biochem. Mol. Biol. 68:1999;77-82.
4. Calle E., Berciano M. T., Fernandez R., Lafarga M. Activation of the autophagy, c-FOS and ubiquitin expression, and nucleolar alterations in Schwann cells precede demyelination in tellurium-induced neuropathy. Acta Neuropathol. 97:1999;143-155.
5. Chance P. F., Alderson M. K., Leppig K. A., Lensch M. W., Matsunami N., Smith B., Swanson P. D., Odelberg S. J., Disteche C. M., Bird T. D. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 72:1993;143-151.
6. Chance P. F., Abbas N., Lensch M. W., Pentao L., Roa B. B., Patel P. I., Lupski J. R. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet. 3:1994;223-228.
7. D'Urso D., Ehrhardt P., Müller H. W. Peripheral myelin protein 22 and protein zero: A novel association in peripheral nervous system myelin. J. Neurosci. 19:1999;3396-3403.
8. Davis S., Aldrich T. H., Valenzuela D. M., Wong V. V., Furth M. E., Squinto S. P., Yancopoulos G. D. The receptor for ciliary neurotrophic factor. Science. 253:1991;59-63.
9. Deschenes S. M., Walcott J. L., Wexler T. L., Scherer S. S., Fischbeck K. H. Altered trafficking of mutant connexin32. J. Neurosci. 17:1997;9077-9084.
10. 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. 9:1995;1846-1856.
11. Fenteany G., Standaert R. F., Lane W. S., Choi S., Corey E. J., Schreiber S. L. Inhibition of proteasome activities and subunit-specific amino-terminal threonine modification by lactacystin. Science. 268:1995;726-732.
12. Hochstrasser M. Ubiquitin-dependent protein degradation. Annu. Rev. Genet. 30:1996;405-439.
13. Johnston J. A., Ward C. L., Kopito R. R. Aggresomes: A cellular response to misfolded proteins. J. Cell Biol. 143:1998;1883-1898.
14. Lippincott-Schwartz J. Cytoskeletal proteins and Golgi dynamics. Curr. Opin. Cell Biol. 10:1998;52-59.
15. Matsunami N., Smith B., Ballard L., Lensch M. W., Robertson M., Albertsen H., Hanemann C. O., Muller H. W., Bird T. D., White R., Chance P. F. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet. 1:1992;176-179.
16. Matteoni R., Kries T. E. Translocation and clustering of endosomes and lysosomes depend on microtubules. J. Cell Biol. 105:1987;1253-1265.
17. Naef R., Adlkofer K., Lescher B., Suter U. Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol. Cell. Neurosci. 9:1997;13-25.
18. Naef R., Suter U. Many facets of the peripheral myelin protein PMP22 in myelination and disease. Microsc. Res. Tech. 41:1998;359-371.
19. Naef R., Suter U. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neurobiol. Dis. 6:1999;1-14.
20. Nixon R. A., Cataldo A. M. The endosomal-lysosomal system of neurons: New roles. Trends Neurosci. 18:1995;489-496.
21. Notterpek L., Shooter E. M., Snipes G. J. Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy. J. Neurosci. 17:1997;4190-4200.
22. Notterpek L., Snipes G. J., Shooter E. M. Temporal expression pattern of peripheral myelin protein 22 during in vivo and in vitro myelination. Glia. 25:1999;358-369.
23. Notterpek, L, &, Tolwani, R. Experimental models of peripheral neuropathies, Lab. Anim. Sci, in press.
24. Pareek S., Notterpek L., Snipes G. J., Naef R., Sossin W., Laliberté J., Iacampo S., Suter U., Shooter E. M., Murphy R. A. Neurons promote the translocation of peripheral myelin protein 22 into myelin. J. Neurosci. 17:1997;7754-7762.
25. Patel P. I., Roa B. B., Welcher A. A., Schoener-Scott R., Trask B. J., Pentao L., Snipes G. J., Garcia C. A., Francke U., Shooter E. M., Lupski J. R., Suter U. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1:1992;159-165.
26. Schenone A., Nobbio L., Mandich P., Bellone E., Abbruzzese M., Aymar F., Mancardi G. L., Winebank A. J. Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure pulsies. Neurology. 48:1997;445-449.
27. Squinto S. P., Stitt T. N., Aldrich T. H., Davis S., Bianco S. M., Radziejewski C., Glass D. J., Masiakowski P., Furth M. E., Valenzuela D. M. trkB encodes a functional receptor for brain-derived neurotrophic factor and neurotrophin-3 but not nerve growth factor. Cell. 65:1991;885-893.
28. Suter U., Snipes G. J. Biology and genetics of hereditary motor and sensory neuropathies. Annu. Rev. Neurosci. 18:1995;45-75.
29. Tobler A. R., Notterpek L., Naef R., Taylor V., Suter U., Shooter E. M. 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. Neurosci. 19:1999;2027-2036.
30. Vallat J. M., Sindou P., Preux P. M., Tabaraud F., Milor A. M., Couratier P., LeGuern E., Brice A. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann. Neurol. 39:1996;813-817.
31. Ward C. L., Kopito R. R. Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins. J. Biol. Chem. 269:1994;25710-25718.
32. Weinmaster G., Lemke G. Cell-specific cyclic AMP-mediated induction of the PDGF receptor. EMBO J. 9:1990;915-920.
33. Wong M. H., Filbin M. T. Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain. J. Cell Biol. 134:1996;1531-1541.
34. Zhang K., Filbin M. T. Myelin Po protein mutated at Cys21 has a dominant-negative effect on adhesion of wild type Po. J. Neurosci. Res. 53:1998;1-6.
35. Zoidl G., Blass-Kampmann S., D'Urso D., Schmalenbach C., Muller H. W. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: Modulation of cell growth. EMBO J. 14:1995;1122-1128.
36. Zoidl G., D'Urso D., Blass-Kampmann S., Schmalenbach C., Kuhn R., Muller H. W. Influence of elevated expression of rat wild-type PMP22 and its mutant PMP22 Trembler on cell growth of NIH3T3 fibroblasts. Cell Tissue Res. 287:1997;459-470.