The consequences of pathogenic mutations to the human prion protein

Protein Engineering, Design and Selection

Volumn 22, Issue 8, 2009, Pages 461-468

  Van Der Kamp, Marc W ^a   Daggett, Valerie ^a  

^a University of Washington   (United States)

Author keywords

Aggregation; Genetics; Protein stability; TSE

Indexed keywords

AGGREGATION; CELLULAR INTERACTION; CONFORMATIONAL TRANSITIONS; GENETIC FACTORS; GENETICS; HUMAN PRION PROTEIN; NEURODEGENERATION; PATHOGENIC MUTATION; PRION DISEASE; PRION PROTEIN; PROTEIN STABILITY; SCIENTIFIC COMMUNITY; SINGLE-POINT MUTATION; TSE;

CHROMOSOMES;

PATHOLOGY;

PRION PROTEIN;

CELL INTERACTION; CONFORMATIONAL TRANSITION; GENETICS; HUMAN; NERVE DEGENERATION; PATHOGENICITY; POINT MUTATION; PRION DISEASE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN FOLDING; PROTEIN STABILITY; REVIEW;

HUMANS; MODELS, MOLECULAR; NUCLEAR MAGNETIC RESONANCE, BIOMOLECULAR; POINT MUTATION; PRIONS; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY;

EID: 70349195971     PISSN: 17410126     EISSN: 17410134     Source Type: Journal    
DOI: 10.1093/protein/gzp039     Document Type: Review

References (115)

1. Alonso, D.O.V. and Daggett, V. (2001) Adv. Protein Chem., 57, 107-137.
2. Alonso, D.O.V., DeArmond, S.J., Cohen, F.E. and Daggett, V. (2001) Proc. Natl Acad. Sci. USA, 98, 2985-2989.
3. Alonso, D.O.V., An, C. and Daggett, V. (2002) Philos. Trans. R. Soc. Lond. A. Math. Phys. Eng. Sci., 360, 1165-1178.
4. Antonyuk, S.V., et al. (2009) Proc. Natl Acad. Sci. USA, 106, 2554-2558.
5. Apetri, A.C. and Surewicz, W.K. (2002) J. Biol. Chem., 277, 44589-44592.
6. Apetri, A.C., Surewicz, K. and Surewicz, W.K. (2004) J. Biol. Chem., 279, 18008-18014.
7. Apetri, A.C., Vanik, D.L. and Surewicz, W.K. (2005) Biochemistry, 44, 15880-15888.
8. Apetri, A.C., Maki, K., Roder, H. and Surewicz, W.K. (2006) J. Am. Chem. Soc., 128, 11673-11678.
9. Bamdad, K. and Naderi-Manesh, H. (2007) Biochem. Biophys. Res. Commun., 364, 719-724.
10. Barducci, A., Chelli, R., Procacci, P. and Schettino, V. (2005) Biophys. J., 88, 1334-1343.
11. Barducci, A., Chelli, R., Procacci, P., Schettino, V., Gervasio, F.L. and Parrinello, M. (2006) J. Am. Chem. Soc., 128, 2705-2710.
12. Beck, J.A., Mead, S., Campbell, T.A., Dickinson, A., Wientjens, D.P.M.W., Croes, E.A., Van Duijn, C.M. and Collinge, J. (2001) Neurology, 57, 354-356.
13. Bocharova, O.V., Makarava, N., Breydo, L., Anderson, M., Salnikov, V.V. and Baskakov, I.V. (2006) J. Biol. Chem., 281, 2373-2379.
14. Brown, D.R. (2000) Biochem. J., 346, 785-791.
15. Brown, D.R., Herms, J. and Kretzschmar, H.A. (1994) Neuroreport, 5, 2057-2060.
16. Bucciantini, M., Giannoni, E., Chiti, F., Baroni, F., Formigli, L., Zurdo, J.S., Taddei, N., Ramponi, G., Dobson, C.M. and Stefani, M. (2002) Nature, 416, 507-511.
17. Butefisch, C.M., Gambetti, P., Cervenakova, L., Park, K.Y., Hallett, M. and Goldfarb, L.G. (2000) Neurology, 55, 517-522.
18. Calzolai, L. and Zahn, R. (2003) J. Biol. Chem., 278, 35592-35596.
19. Capellari, S., Parchi, P., Russo, C.M., Sanford, J., Sy, M.S., Gambetti, P. and Petersen, R.B. (2000) Am. J. Pathol., 157, 613-622.
20. Capellari, S., Cardone, F., Notari, S., Schinina, E., Maras, B., Sita, D., Baruzzi, A., Pocchiari, M. and Parchi, P. (2005) Neurology, 64, 905-907.
21. Cappai, R., Stewart, L., Jobling, M.F., Thyer, J.M., White, A.R., Beyreuther, K., Collins, S.J., Masters, C.L. and Barrow, C.J. (1999) Biochemistry, 38, 3280-3284.
22. Caughey, B. and Lansbury, P.T. (2003) Annu. Rev. Neurosci., 26, 267-298.
23. Caughey, B.W., Dong, A., Bhat, K.S., Ernst, D., Hayes, S.F. and Caughey, W.S. (1991) Biochemistry, 30, 7672-7680.
24. Chasseigneaux, S., Haik, S., Laffont-Proust, I., De Marco, O., Lenne, M., Brandel, J.P., Hauw, J.J., Laplanche, J.L. and Peoc'h, K. (2006) Neurosci. Lett., 408, 165-169.
25. Chen, S.G., Zou, W., Parchi, P. and Gambetti, P. (2000) Arch. Virol., 209-216.
26. Cobb, N.J., Sonnichsen, F.D., McHaourab, H. and Surewicz, W.K. (2007) Proc. Natl Acad. Sci. USA, 104, 18946-18951.
27. Cobb, N.J., Apetri, A.C. and Surewicz, W.K. (2008) J. Biol. Chem., 283, 34704-34711.
28. Colucci, M., et al. (2006) J. Neuropathol. Exp. Neurol., 65, 642-651.
29. De Simone, A., Dodson, G.G., Verma, C.S., Zagari, A. and Fraternali, F. (2005) Proc. Natl Acad. Sci. USA, 102, 7535-7540.
30. DeLano, W.L. (2002) The PyMOL Molecular Graphics System. DeLano Scientific, Palo Alto, CA, USA.
31. DeMarco, M.L. and Daggett, V. (2004) Proc. Natl Acad. Sci. USA, 101, 2293-2298.
32. DeMarco, M.L. and Daggett, V. (2005) C. R. Biol., 328, 847-862.
33. DeMarco, M.L. and Daggett, V. (2007) Biochemistry, 46, 3045-3054.
34. DeMarco, M.L. and Daggett, V. (2009) J. Neurochem., 109, 60-73.
35. DeMarco, M.L., Silveira, J., Caughey, B. and Daggett, V. (2006) Biochemistry, 45 , 15573-15582.
36. Dima, R.I. and Thirumalai, D. (2004) Proc. Natl Acad. Sci. USA, 101, 15335-15340.
37. Drisaldi, B., Stewart, R.S., Adles, C., Stewart, L.R., Quaglio, E., Biasini, E., Fioriti, L., Chiesa, R. and Harris, D.A. (2003) J. Biol. Chem., 278, 21732-21743.
38. Forloni, G., Angeretti, N., Chiesa, R., Monzani, E., Salmona, M., Bugiani, O. and Tagliavini, F. (1993) Nature, 362, 543-546.
39. Forloni, G., Angeretti, N., Malesani, P., Peressini, E., Martin, T.R., Della Torre, P. and Salmona, M. (1999) Ann. Neurol., 45, 489-494.
40. Gallo, M., et al. (2005) Int. J. Immunopathol. Pharmacol., 18, 95-112.
41. Goldfarb, L.G., Brown, P., Mccombie, W.R., Goldgaber, D., Swergold, G.D., Wills, P.R., Cervenakova, L., Baron, H., Gibbs, C.J. and Gajdusek, D.C. (1991) Proc. Natl Acad. Sci. USA, 88, 10926-10930.
42. Goldfarb, L.G., et al. (1992) Science, 258, 806-808.
43. Grasbon-Frödl, E., Lorenz, H., Mann, U., Nitsch, R.M., Windl, O. and Kretzschmar, H.A. (2004) Acta Neuropathol., 108, 476-484.
44. Gsponer, J., Ferrara, P. and Caflisch, A. (2001) J. Mol. Graph. Model., 20, 169-182.
45. Gu, Y.P. and Singh, N. (2004) Mol. Brain Res., 123, 37-44.
46. Gu, Y.P., Verghese, S., Bose, S., Mohan, M. and Singh, N. (2007) J. Mol. Neurosci., 32, 90-96.
47. Gu, Y.P., Singh, A., Bose, S. and Singh, N. (2008) Mol. Cell. Neurosci., 37, 647-656.
48. Harris, D.A. (2003) Br. Med. Bull., 66, 71-85.
49. Hartley, D.M., Walsh, D.M., Ye, C.P.P., Diehl, T., Vasquez, S., Vassilev, P.M., Teplow, D.B. and Selkoe, D.J. (1999) J. Neurosci., 19, 8876-8884.
50. Hegde, R.S., Mastrianni, J.A., Scott, M.R., DeFea, K.A., Tremblay, P., Torchia, M., DeArmond, S.J., Prusiner, S.B. and Lingappa, V.R. (1998) Science, 279, 827-834.
51. Helmus, J.J., Surewicz, K., Nadaud, P.S., Surewicz, W.K. and Jaroniec, C.P. (2008) Proc. Natl Acad. Sci. USA, 105, 6284-6289.
52. Heske, J., Heller, U., Winklhofer, K.F. and Tatzelt, J. (2004) J. Biol. Chem., 279, 5435-5443.
53. Hill, A.F., Joiner, S., Beck, J.A., Campbell, T.A., Dickinson, A., Poulter, M., Wadsworth, J.D.F. and Collinge, J. (2006) Brain, 129, 676-685.
54. Hilton, D.A., Head, M.W., Singh, V.K., Bishop, M. and Ironside, J.W. (2009) Neuropathol. Appl. Neurobiol., 35, 111-115.
55. Horiuchi, M., Chabry, J. and Caughey, B. (1999) EMBO J., 18, 4085-14085
56. Jackson, G.S., Hill, S.F., Joseph, C., Hosszu, L., Power, A., Waltho, J.P., Clarke, A.R. and Collinge, J. (1999) Biochim. Biophys. Acta, 1431, 1-13.
57. Jodoin, J., Laroche-Pierre, S., Goodyer, C.G. and LeBlanc, A.C. (2007) J. Neurosci., 27, 5081-5091.
58. Jones, E.M., Surewicz, K. and Surewicz, W.K. (2006) J. Biol. Chem., 281, 8190-8196.
59. Jones, M., McLoughlin, V., Connolly, J.G., Farquhar, C.F., MacGregor, I.R. and Head, M.W. (2009) Hybridoma, 28, 13-20.
60. Kayed, R., Head, E., Thompson, J.L., McIntire, T.M., Milton, S.C., Cotman, C.W. and Glabe, C.G. (2003) Science, 300, 486-489.
61. Kazmirski, S.L., Alonso, D.O.V., Cohen, F.E., Prusiner, S.B. and Daggett, V. (1995) Chem. Biol., 2, 305-315.
62. Kiachopoulos, S., Bracher, A., Winklhofer, K.F. and Tatzelt, J. (2005) J. Biol. Chem., 280, 9320-9329.
63. Kim, S.J. and Hegde, R.S. (2002) Mol. Biol. Cell, 13, 3775-3786.
64. Knaus, K.J., Morillas, M., Swietnicki, W., Malone, M., Surewicz, W.K. and Yee, V.C. (2001) Nat. Struct. Biol., 8, 770-774.
65. Kovacs, G.G., et al. (2005) Hum. Genet., 118, 166-174.
66. Kundu, B., Maiti, N.R., Jones, E.M., Surewicz, K.A., Vanik, D.L. and Surewicz, W.K. (2003) Proc. Natl Acad. Sci. USA, 100, 12069-12074.
67. Langella, E., Improta, R., Crescenzi, O. and Barone, V. (2006) Proteins: Struct. Funct. Bioinform., 64, 167-177.
68. Le Pichon, C.E. and Firestein, S. (2008) J. Comp. Neurol., 508, 487-499.
69. Levy, Y. and Becker, O.M. (2002) Proteins: Struct. Funct. Genet., 47, 458-468.
70. Levy, Y., Hanan, E., Solomon, B. and Becker, O.M. (2001) Proteins: Struct. Funct. Genet., 45, 382-396.
71. Liemann, S. and Glockshuber, R. (1999) Biochemistry, 38, 3258-3267.
72. Linden, R., Martins, V.R., Prado, M.A.M., Cammarota, M., Izquierdo, I. and Brentani, R.R. (2008) Physiol. Rev., 88, 673-728.
73. Lorenz, H., Windl, O. and Kretzschmar, H.A. (2002) J. Biol. Chem., 277, 8508-8516.
74. Lu, X.J., Wintrode, P.L. and Surewicz, W.K. (2007) Proc. Natl Acad. Sci. USA, 104, 1510-1515.
75. Matucci, A., et al. (2005) Brain Res. Bull., 65, 155-162.
76. McLean, C.A., Storey, E., Gardner, R.J.M., Tannenberg, A.E.G., Cervenakova, L. and Brown, P. (1997) Neurology, 49, 552-558.
77. Mead, S. (2006) Eur. J. Hum. Genet., 14, 273-281.
78. Megy, S., Bertho, G., Kozin, S.A., Debey, P., Hoa, G.H.B. and Girault, J.P. (2004) Protein Sci., 13, 3151-3160.
79. Millhauser, G.L. (2007) Annu. Rev. Phys. Chem., 58, 299-320.
80. Mishra, R.S., Bose, S., Gu, Y., Li, R. and Singh, N. (2003) J. Alzheimers Dis., 5, 15-23.
81. Nixon, R., Camicioli, R., Jamison, K., Cervenakova, L. and Mastrianni, J.A. (2000) Brain Pathol., 10, 670.
82. Norstrom, E.M. and Mastrianni, J.A. (2005) J. Biol. Chem., 280, 27236-27243.
83. Pan, K.M., et al. (1993) Proc. Natl Acad. Sci. USA, 90, 10962-10966.
84. Pastore, M., Chin, S.S., Bell, K.L., Dong, Z.Q., Yang, Q.W., Yang, L.Z., Yuan, J., Chen, S.G., Gambetti, P. and Zou, W.Q. (2005) Am. J. Pathol., 167, 1729-1738.
85. Perrier, V., Solassol, J., Crozet, C., Frobert, Y., Mourton-Gilles, C., Grassi, J. and Lehmann, S. (2004) J. Neurochem., 89, 454-463.
86. Piccardo, P., et al. (1998) J. Neuropathol. Exp. Neurol., 57, 979-988.
87. Piccardo, P., et al. (2001) Am. J. Pathol., 158, 2201-2207.
88. Puoti, G., Rossi, G., Giaccone, G., Awan, T., Lievens, P.M.J., Defanti, C.A., Tagliavini, F. and Bugiani, O. (2000) Ann. Neurol., 48, 269-270.
89. Riek, R., Wider, G., Billeter, M., Hornemann, S., Glockshuber, R. and Wuthrich, K. (1998) Proc. Natl Acad. Sci. USA, 95, 11667-11672.
90. Santini, S. and Derreumaux, P. (2004) Cell. Mol. Life Sci., 61, 951-960.
91. Santini, S., Claude, J.B., Audic, S. and Derreumaux, P. (2003) Proteins: Struct. Funct. Genet., 51, 258-265.
92. Schiff, E., Campana, V., Tivodar, S., Lebreton, S., Gousset, K. and Zurzolo, C. (2008) Traffic, 9, 1101-1115.
93. Scouras, A.D. and Daggett, V. (2008) J. Mater. Sci., 43, 3625-3637.
94. Shamsir, M.S. and Dalby, A.R. (2007) Biophys. J., 92, 2080-2089.
95. Singh, N., Zanusso, G., Chen, S.G., Fujioka, H., Richardson, S., Gambetti, P. and Petersen, R.B. (1997) J. Biol. Chem., 272, 28461-28470.
96. Singh, A., Mohan, M.L., Isaac, A.O., Luo, X., Petrak, J., Vyoral, D. and Singh, N. (2009) PLoS ONE, 4, e4468.
97. Speare, J.O., Rush, T.S., Bloom, M.E. and Caughey, B. (2003) J. Biol. Chem., 278, 12522-12529.
98. Supattapone, S., et al. (1999) Cell, 96, 869-878.
99. Supattapone, S., Bouzamondo, E., Ball, H.L., Wille, H., Nguyen, H.O.B., Cohen, F.E., DeArmond, S.J., Prusiner, S.B. and Scott, M. (2001) Mol. Cell. Biol., 21, 2608-2616.
100. Swietnicki, W., Petersen, R.B., Gambetti, P. and Surewicz, W.K. (1998) J. Biol. Chem., 273, 31048-31052.
101. Thompson, A.J., Barnham, K.J., Norton, R.S. and Barrow, C.J. (2001) Biochim. Biophys. Acta, 1544, 242-254.
102. Tunnell, E., Wollman, R., Mallik, S., Cortes, C.J., DeArmond, S.J. and Mastrianni, J.A. (2008) Neurology, 71, 1431-1438.
103. Vanik, D.L. and Surewicz, W.K. (2002) J. Biol. Chem., 277, 49065-49070.
104. Viles, J.H., Klewpatinond, M. and Nadal, R.C. (2008) Biochem. Soc. Trans., 36 , 1288-1292.
105. Wadsworth, J.D.F., et al. (2006) Brain, 129, 1557-1569.
106. Watanabe, Y., Hiraoka, W., Shimoyama, Y., Horiuchi, M., Kuwabara, M. and Inanami, O. (2008) Biochem. Biophys. Res. Commun., 366, 244-249.
107. Watzlawik, J., Skora, L., Frense, D., Griesinger, C., Zweckstetter, M., Schulz-Schaeffer, W.J. and Kramer, M.L. (2006) J. Biol. Chem., 281, 30242-30250.
108. Wille, H., Zhang, G.F., Baldwin, M.A., Cohen, F.E. and Prusiner, S.B. (1996) J. Mol. Biol., 259, 608-621.
109. Zahn, R., Liu, A.Z., Luhrs, T., Riek, R., von Schroetter, C., Garcia, F.L., Billeter, M., Calzolai, L., Wider, G. and Wuthrich, K. (2000) Proc. Natl Acad. Sci. USA, 97, 145-150.
110. Zaidi, S.I.A., Richardson, S.L., Capellari, S., Song, L., Smith, M.A., Ghetti, B., Sy, M.S., Gambetti, P. and Petersen, R.B. (2005) J. Alzheimers Dis., 7, 159-171.
111. Zanusso, G., Petersen, R.B., Jin, T.C., Jing, Y., Kanoush, R., Ferrari, S., Gambetti, P. and Singh, N. (1999) J. Biol. Chem., 274, 23396-23404.
112. Zhang, Y.B., Swietnicki, W., Zagorski, M.G., Surewicz, W.K. and Sonnichsen, F.D. (2000) J. Biol. Chem., 275, 33650-33654.
113. Zhang, Y., Dai, L.R., Iwamoto, M. and Ou-Yang, Z.C. (2006a) Thin Solid Films, 499, 224-228.
114. Zhang, Y., Qian, J., Wang, P.Y. and Ou-Yang, Z.C. (2006b) J. Comput. Theor. Nanosci., 3, 964-969.
115. Zuegg, J. and Gready, J.E. (1999) Biochemistry, 38, 13862-13876.