Mitochondrial DNA mutations and pathogenesis

Journal of Bioenergetics and Biomembranes

Volumn 29, Issue 2, 1997, Pages 131-149

  Schon, Eric A ^a   Bonilla, Eduardo ^a   DiMauro, Salvatore ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

ATP; Cardiopathy; Deafness; Diabetes; Encephalomyopathy; KSS; Leigh; LHON; Maternal inheritance; MELAS; MERRF; MILS; Mitochondrial DNA; Muscle; Myopathy; NARP; Oxidative phosphorylation; PEO; Respiratory chain

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA;

ARTICLE; CARDIOMYOPATHY; DIABETES MELLITUS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENCEPHALOMYOPATHY; EXTERNAL OPHTHALMOPLEGIA; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; GENE REARRANGEMENT; HEARING IMPAIRMENT; HEREDITARY OPTIC ATROPHY; HUMAN; KEARNS SAYRE SYNDROME; MELAS SYNDROME; MERRF SYNDROME; MYOGLOBINURIA; MYOPATHY; RETINITIS PIGMENTOSA;

CARDIOMYOPATHIES; DEAFNESS; DIABETES MELLITUS; DNA, MITOCHONDRIAL; GENE REARRANGEMENT; GENETIC DISEASES, INBORN; HUMANS; MELAS SYNDROME; MERRF SYNDROME; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; OPTIC ATROPHIES, HEREDITARY;

EID: 0030788482     PISSN: 0145479X     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022685929755     Document Type: Article

References (188)

1. Aflalo, C., and Segel, L. A. (1992). J. Theor. Biol. 158, 67-108.
2. Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M., and Tanaka, H. (1995). Circulation 91, 955-961.
3. Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., and Young, I. G. (1981). Nature 290, 457-465.
4. Ballinger, S. W., Shoffner, J. M., Gebhart, S., Koontz, D. A., and Wallace, D. C. (1994). Nature Genet. 7, 458-459 (letter).
5. Ban, S.-i., Mori, N., Saito, K., Mizukami, K., Suzuki, T., and Shiraishi, H. (1992). Acta Pathol. Jpn. 42, 818-825.
6. Bentlage, H. A. C. M. and Attardi, G. (1996). Hum. Mol. Genet. 5, 197-205.
7. Berkovic, S. F., Andermann, F., Shoubridge, E. A., Carpenter, S., Robitaille, Y., Andermann, E., Melmed, C., and Karpati, G. (1991). Ann. Neurol. 29, 566-569.
8. Bernes, S. M., Bacino, C., Prezant, T. R., Pearson, M. A., Wood, T. S., Fournier, P., and Fischel-Ghodsian, N. (1993). J. Pediatr. 123, 598-602.
9. Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K. J., Lightowlers, R. N., Turnbull, D. M., and Weber, K. (1993). J. Biol. Chem. 268, 19559-19564.
10. Bohlega, S., Tanji, K., Santorelli, F., Hirano, M., al-Jishi, A., and DiMauro, S. (1996). Neurology 46, 1329-1334.
11. Brockington, M., Sweeney, M. G., Hammans, S. R., Morgan-Hughes, J. A., and Harding, A. E. (1993). Nature Genet. 4, 67-71.
12. Brockington, M., Alsanjari, N., Sweeney, M. G., Morgan-Hughes, J. A., Scaravilli, F., and Harding, A. E. (1995). J. Neurol. Sci. 131, 78-87.
13. Calabresi, P. A., Silvestri, G., DiMauro, S., and Griggs, R. C. (1994). Muscle Nerve 17, 943-945.
14. Calo, D., De Pascali, A., Sasanelli, D., Tanzariello, F., Ponzetta, M. T., Saccone, C., and Attimonelli, M. (1997). Nucleic Acids Res. 25, 200-205.
15. Casali, C., Santorelli, F. M., Dl Amati, G., Bernucci, P., DeBiase, L., and DiMauro, S. (1995). Biochem. Biophys. Res. Commun. 213, 588-593.
16. Chen, X., Prosser, R., Simonetti, S., Sadlock, J., Jagiello, G., and Schon, E. A. (1995). Am. J. Hum. Genet. 57, 239-247.
17. Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G., and Attardi, G. (1991). Mol. Cell. Biol. 11, 2236-2244.
18. Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S. T., Nonaka, I., Angelini, C., and Attardi, G. (1992). Proc. Natl. Acad. Sci. USA 89, 4221-4225.
19. Christianson, T. W., and Clayton, D. A. (1986). Proc. Natl. Acad. Sci. USA 83, 6277-6281.
20. Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C. T., Silvestri, G., Hirano, M., Simonetti, S., Angelini, C., Donati, A., Garcia, C., Martinuzzi, A., Mosewich, R., Servidei, S., Zammarchi, E., Bonilla, E., DeVivo, D. C., RowlAnd, L. P., Schon, E. A., and DiMauro, S. (1992). Ann. Neurol. 31, 391-398.
21. Davidson, M., Zhang, L., Koga, Y., Schon, E. A., and King, M. P. (1995). Neurology 45, A831.
22. De Meirleir, L., Seneca, S., Lissens, W., Schoentjes, E., and Desprechins, B. (1995). Pediatr. Neurol. 13, 242-246.
23. de Vries, D. D., van Engelen, B. G. M., Gabreëls, F. J. M., Ruitenbeek, W., and van Oost, B. A. (1993). Ann. Neurol. 34, 410-412.
24. de Vries, D. D., Went, L. N., Bruyn, G. W., Scholte, H. R., Hofstra, R. M. W., Bolhuis, P. A., and van Oost, B. A. (1996). Am. J. Hum. Genet. 58, 703-711.
25. Dorner, G., and Mohnike, A. (1976). Endokrinologie 68, 121-124.
26. Dunbar, D. R., Moonie, P. A., Swingler, R. J., Davidson, D., Roberts, R., and Holt, I. J. (1993). Hum. Mol. Genet. 2, 1619-1624.
27. Dunbar, D. R., Moonie, P. A., Zeviani, M., and Holt, I. J. (1996). Hum. Mol. Genet. 5, 123-129.
28. El-Schahawi, M., Santorelli, F. M., Malkin, E., Shanske, S., and DiMauro, S. (1995). J. Mol. Med. 73, B37.
29. El-Schahawi, M., López de Munain, A., Sarrazin, A. M., Shanske, A. L., Basirico, M., Shanske, S., and DiMauro, S. (1997). Neurology 48, 453-456.
30. Enriquez, J. A., Chomyn, A., and Attardi, G. (1995). Nature Genet. 10, 47-55.
31. Erecinska, M., and Silver, I. A. (1989). J. Cereb. Blood Flow Metab. 9, 2-19.
32. Erickson-Viitanen, S., Viitanen, P., Geiger, P. J., and Yang, W. C. (1982). J. Biol. Chem. 257, 14395-14404.
33. Folgero, T., Torbergsen, T., and Oian, P. (1995). Eur. Neurol. 35, 168-171.
34. Fromenty, B, Manfredi, G., Sadlock, J., Zhang, L., King, M. P., and Schon, E. A. (1996). Biochim. Biophys. Acta 1308, 222-230.
35. Fromenty, B., Carrozzo, R., Shanske, S., and Schon, E. A. (1997). Am. J. Med. Genet., in press.
36. Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., and Shoubridge, E. A. (1996). Hum. Mol. Genet. 5, 1835-1840.
37. Fukuhara, N., Tokigushi, S., Shirakawa, K., and Tsubaki, T. (1980). J. Neurol. Sci. 47, 117-133.
38. Gattermann, N., Retzlaff, S., Wang, Y.-L., Berneburg, M., Heinisch, J., Wlaschek, M., Aul, C., and Schneider, W. (1996). Br. J. Haematol. 93, 845-855.
39. Gerbitz, K. D., Paprotta, A., Jaksch, M., Zierz, S., and Drechsel, J. (1993). FEBS Lett. 321, 194-196.
40. Goto, Y.-i., Nonaka, I., and Horai, S. (1990). Nature 348, 651-653.
41. Goto, Y.-i., Nonaka, I., and Horai, S. (1991). Biochim. Biophys. Acta 1097, 238-240.
42. Goto, Y.-i., Tojo, M., Tohyama, J., Horai, S., and Nonaka, I. (1992). Ann. Neurol. 31, 672-675.
43. Goto, Y.-i., Tsugane, K., Tanabe, Y., Nonaka, I., and Horai, S. (1994). Biochem. Biophys. Res. Commun. 202, 1624-1630.
44. Hammans, S. R., Sweeney, M. G., Wicks, D. A. G., Morgan-Hughes, J. A., and Harding, A. E. (1992). Brain 115, 343-365.
45. Hanna, M. G., Nelson, I., Sweeney, M. G., Cooper, J. M., Watkins, P. J., Morgan-Hughes, J. A., and Harding, A. E. (1995). Am. J. Hum. Genet. 56, 1026-1033.
46. Hao, H., and Moraes, C. T. (1996). J. Biol. Chem. 271, 2347-2352.
47. Hao, H., Manfredi, G., Clayton, D. A., and Moraes, C. T. (1997). Am. J. Hum. Genet., in press.
48. Harding, A. E., Sweeney, M. G., Miller, D. H., Mumford, C. J., Kellar-Wood, H., Menard, D., McDonald, W. I., and Compston, D. A. S. (1992). Brain 115, 979-989.
49. Hartzog, P. E., and Cain, B. D. (1993). J. Biol. Chem. 268, 12250-12252.
50. Hasegawa, H., Matsuoka, T., Goto, Y.-i, and Nonaka, I. (1991). Ann. Neurol. 29, 601-605.
51. Hasegawa, H., Matsuoka, T., Goto, Y., and Nonaka, I. (1993). Acta Neuropathol. 85, 280-284.
52. Hayashi, J.-I., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y.-i., and Nonaka, I. (1991). Proc. Natl. Acad. Sci. USA 88, 10614-10618.
53. Hess, J. F., Parisi, M. A., Bennett, J. L., and Clayton, D. A. (1991). Nature 351, 236-239.
54. Hevner, R. F., Duff, R. S., and Wong-Riley, M. T. (1992). Neurosci. Lett. 138, 188-192.
55. Hinokio, Y., Suzuki, S., Komatu, K., Ohtomo, M., Onoda, M., Matsumoto, M., Hirai, S., Sato, Y., Akai, H., Abe, K., Miyabayashi, S., Abe, R., and Toyota, T. (1995). Muscle Nerve Suppl. 3, S142-S149.
56. Hirano, M., Ricci, E., Koenigsberger, M. R., Defendini, R., Pavlakis, S. G., De Vivo, D. C., DiMauro, S., and RowlAnd, L. P. (1992). Neuromusc. Disord. 2, 125-135.
57. Hirano, M., Silvestri, G., Blake, D. M., Lombes, A., Minetti, C., Bonilla, E., Hays, A. P., Lovelace, R. E., Butler, I., Bertorini, T. E., Threlkeld, A. B., Mitsumoto, H., Salberg, L. M., RowlAnd, L. P., and DiMauro, S. (1994). Neurology 44, 721-727.
58. Holme, E., Larsson, N.-G., Oldfors, A., Tulinius, M., Sahlin, P., and Stenman, G. (1993). Am. J. Hum. Genet. 52, 551-556.
59. Holt, I. J., Harding, A. E., and Morgan-Hughes, J. A. (1988). Nature 331, 717-719.
60. Holt, I. J., Harding, A. E., and Morgan-Hughes, J. A. (1989). Nucleic Acids Res. 17, 4465-4469.
61. Holt, I. J., Harding, A. E., Petty, R. K. H., and Morgan-Hughes, J. A. (1990). Am. J. Hum. Genet. 46, 428-433.
62. Houstek, J., Klement, P., Hermanska, J., Houstkova, H., Hansokova, H., Van den Bogert, C., and Zeman, J. (1995). Biochim. Biophys. Acta 1271, 349-357.
63. Howell, N., Kubacka, I., Xu, M., and McCullough, D. A. (1991). Am. J. Hum. Genet. 48, 935-942.
64. Howell, N., Smith, R., Frerman, F., Parks, J. K., and Parker, W. D., Jr. (1996). Neurology 46, 219-222.
65. Huang, C.-C., Wai, Y.-Y., Chu, N.-S., Liou, C.-W., Pang, C.-Y., Shin, K.-D., and Wei, Y.-H. (1995). Eur. Neurol. 35, 199-205.
66. Huoponen, K., Vilkki, J., Aula, P., Nikoskelain, E. K., and Savontaus, M.-L. (1991). Am. J. Hum. Genet. 48, 1147-1153.
67. Hutchin, T., Haworth, I., Higashi, K., Fischel-Ghodsian, N., Stoneking, M., Saha, N., Arnos, C., and Cortopassi, G. (1993). Nucl. Acids Res. 21, 4174-4179.
68. Inoue, K., Takai, D., Soejima, A., Isobe, K., Yamasoba, T., Oka, Y., Goto, Y., and Hayashi, J. (1996). Biochem. Biophys. Res. Commun. 223, 496-501.
69. Ishida, Y., Riesinger, I., Wallimann, T., and Paul, R. J. (1994). Mol. Cell. Biochem. 133/134, 39-50.
70. Johns, D. R., and Hurko, O. (1991). Lancet 337, 927-928.
71. Johns, D. R., Neufeld, M. J., and Park, R. D. (1992). Biochem. Biophys. Res. Commun. 187, 1551-1557.
72. Jun, A. S., Brown, M. D., and Wallace, D. C. (1994). Proc. Natl. Acad. Sci. USA 91, 6206-6210.
73. Kadowaki, H., Tobe, K., Mori, Y., Sakura, H., Sakuta, R., Nonaka, I., Hagura, R., Yazaki, Y., Akanuma, Y., and Kadowaki, T. (1993). Lancet 341, 893-894.
74. Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M. P., and Schon, E. A. (1996). Ann. Neurol. 40, 172-180.
75. Kearns, T. P., and Sayre, G. P. (1958). Arch Ophthalmol. 60, 280-289.
76. Keightley, J. A., Hoffbuhr, K. C., Burton, M. D., Salas, V. M., Johnston, W. S. W., Penn, A. M. W., Buist, N. R. M., and Kennaway, N. G. (1996). Nature Genet. 12, 410-416.
77. Kellar-Wood, H., Robertson, N., Govan, G. G., Compston, D. A. S., and Harding, A. E. (1994). Ann. Neurol. 36, 109-112.
78. Kepes, J. J. (1983). Acta Neuropathol. 62, 145-148.
79. King, M. P., and Attardi, G. (1989). Science 246, 500-503.
80. King, M. P., Koga, Y., Davidson, M., and Schon, E. A. (1992). Mol. Cell Biol. 12, 480-490.
81. Kobayashi, M., Morishita, H., Sugiyama, N., Yocochi, K., Nakano, M., Wada, Y., Hotta, Y., Terauchi, A., and Nonaka, I. (1987). J. Pediatr. 110, 223-227.
82. Koga, Y., Davidson, M., Schon, E. A., and King, M. P. (1993). Nucleic Acids. Res. 21, 657-662.
83. Koga, Y., Davidson, M., Schon, E. A., and King, M. P. (1995). Muscle Nerve Suppl. 3, S119-S123.
84. Kogelnik, A. M., Lott, M. T., Brown, M. D., Navathe, S. B., and Wallace, D. C. (1997). Nucleic Acids Res. 25, 196-199.
85. Kruse, B., Narasimhan, N., and Attardi, G. (1989). Cell 58, 391-397.
86. Lamminen, T., MajAnder, A., Juvonen, V., Wikstrom, M., Aula, P., Nikoskelainen, E., and Savontaus, M.-L. (1995). Am. J. Hum. Genet. 56, 1238-1240.
87. Lauber, J., Marsac, C., Kadenbach, B., and Seibel, P. (1991). Nucleic Acids Res. 19, 1393-1397.
88. Leber, T. (1871). Albrecht von Graefe's Arch. Ophthalmol. 17 (Abt. II), 249-291.
89. Lertrit, P., Noer, A. S., Jean-Francois, M. J. B., Kapsa, R., Dennett, X., Thyagarajan, D., Lethlean, K., Byrne, E., and Marzuki, S. (1992). Am. J. Hum. Genet. 51, 457-468.
90. Lestienne, P., and Ponsot, G. (1988). Lancet 1, 885 (letter).
91. Lindgren, C. A., and Smith, D. O. (1986). J. Neurosci. 6, 2644-2652.
92. Manfredi, G., Schon, E. A., Moraes, C. T., Bonilla, E., Berry, G. T., Sladky, J. T., and DiMauro, S. (1995a). Neuromusc. Disord. 5, 391-398.
93. Manfredi, G., Servidei, S., Bonilla, E., Shanske, S., Schon, E. A., DiMauro, S., and Moraes, C. T. (1995b). Neurology 45, 762-768.
94. Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S., and DiMauro, S. (1996). Hum. Mutat. 7, 158-163.
95. Masucci, J., and Schon, E. A. (1996). Mol. Biol. Rep. 22, 187-193.
96. Masucci, J., Davidson, M., Koga, Y., DiMauro, S., Schon, E. A., and King, M. P. (1995). Mol. Cell. Biol. 15, 2872-2881.
97. Matthews, P. M., Tampieri, D., Berkovic, S. F., Andermann, F., Silver, K., Chityat, D., and Arnold, D. L. (1991). Neurology 41, 1043-1046.
98. Matthews, P. M., Andermann, F., Silver, K., Karpati, G., and Arnold, D. L. (1993). Neurology 43, 2484-2490.
99. Matthijs, G., Claes, S., Longo-Mbenza, B., and Cassiman, J.-J. (1996). Eur. J. Hum. Genet. 4, 46-51.
100. McShane, M. A., Hammans, S. R., Sweeney, M., Holt, I. J., Beattie, T. J., Brett, E. M., and Harding, A. E. (1991). Am. J. Hum. Genet. 48, 39-42.
101. Merante, F., Tein, I., Benson, L., and Robinson, B. H. (1994). Am. J. Hum. Genet. 55, 437-446.
102. Merante, F., Myint, T., Tein, I., Benson, L., and Robinson, B. H. (1996). Hum. Mutat. 8, 216-222.
103. Mita, S., Schmidt, B., Schon, E. A., DiMauro, S., and Bonilla, E. (1989). Proc. Natl. Acad. Sci. USA 86, 9509-9513.
104. Mita, S., Rizzuto, R., Moraes, C. T., Shanske, S., Arnaudo, E., Fabrizi, G., Koga, Y., DiMauro, S., and Schon, E. A. (1990). Nucleic Acids Res. 18, 561-567.
105. Montoya, J., Gaines, G. L., and Attardi, G. (1983). Cell 34, 151-159.
106. Moraes, C. T., and Schon, E. A. (1995). In Progress in Cell Research, Vol. 5 (Palmieri, F., Papa, S., Saccone, C., and Gadaleta, M. N., eds.), Elsevier, Amsterdam, pp. 209-215.
107. Moraes, C. T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., MirAnda, A. F., Nakase, H., Bonilla, E., Wernec, L. C., Servidei, S., Nonaka, I., Koga, Y., Spiro, A., Brownell, K. W., Schmidt, B., SchotlAnd, D. L., Zupanc. M. D., DeVivo, D. C., Schon, E. A., and RowlAnd, L. P. (1989). N. Engl. J. Med. 320, 1293-1299.
108. Moraes, C. T., Shanske, S., Tritschler, H.-J., Aprille, J. R., Andreetta, F., Bonilla, E., Schon, E., and DiMauro, S. (1991). Am. J. Hum. Gen. 48, 492-501.
109. Moraes, C. T., Ricci, E., Bonilla, E., DiMauro, S., and Schon, E. A. (1992). Am. J. Hum. Genet. 50, 934-949.
110. Moraes, C. T., Ciacci, F., Bonilla, E., Ionasescu, V., Schon, E. A., and DiMauro, S. (1993a). Nature Genet. 4, 284-288.
111. Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., RowlAnd, L. P., Schon, E. A., and DiMauro, S. (1993b). J. Clin. Invest. 92, 2906-2915.
112. Moraes, C. T., Ciacci, F., Silvestri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E., and DiMauro, S. (1993c). Neuromusc. Disord. 3, 43-50.
113. Morris, R. L., and Hollenbeck, P. J. (1993). J. Cell Sci. 104, 917-927.
114. Morten, K. J., Cooper, J. M., Brown, G. K., Lake, B. D., Pike, D., and Poulton, J. (1993). Hum. Mol. Genet. 2, 2081-2087.
115. Mueller-Klieser, W., and Walenta, S. (1993). Histochem. J. 25, 407-420.
116. Nakamura, M., Nakano, S., Goto, Y.-i., Ozawa, M., Nagahama, Y., Fukuyama, H., Akiguchi, I., Kaji, R., and Kimura, J. (1995). Biochem. Biophys. Res. Commun. 214, 86-93.
117. Nakase, H., Moraes, C. T., Rizzuto, R., Lombes, A., DiMauro, S., and Schon, E. A. (1990). Am. J. Hum. Genet. 46, 418-427.
118. Nelson, I., Hanna, M. G., Alsanjari, N., Scaravilli, F., Morgan-Hughes, J. A., and Harding, A. E. (1995). Ann. Neurol. 37, 400-403.
119. Niaudet, P., Heidet, L., Munnich, A., Schmitz, J., Bouissou, F., Gubler, M. C., and A., R. (1994). Pediatr. Nephrol. 8, 164-168.
120. Nishino, I., Seki, A., Maegaki, Y., Takeshita, K., Horai, S., Nonaka, I., and Goto, I. (1996). Am. J. Hum. Genet. 59, A400.
121. Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., and Ozawa, T. (1992). Am. Heart J. 124, 1263-1269.
122. Ohama, E., and Ikuta, F. (1987). Acta Neuropathol. 75, 1-7.
123. Onishi, H., Inoue, K., Osaka, H., Kimura, S., Nagatomo, H., Hanihara, T., Kawamoto, S., Okuda, K., Yamada, Y., and Kosaka, K. (1993). J. Neurol. Sci. 114, 205-208.
124. Ozawa, T., Tanaka, M., Sugiyama, S., Ino, H., Hattori, K., Ohbayashi, T., Ito, T., Deguchi, H., Kawamura, K., Nakane, Y., and Hashiba, K. (1991). Biochem. Biophys. Res. Commun. 177, 518-525.
125. Ozawa, M., Nishino, I., Horai, S., Nonaka, I., and Goto, Y.-i. (1997). Muscle Nerve 20, 271-278.
126. Pastores, G. M., Santorelli, F. M., Shanske, S., Gelb, B. D., Fyfe, B., Wolfe, D., and Willner, J. P. (1994). Am. J. Med. Genet. 50, 265-271.
127. Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., and Marsh, J. C. (1979). J. Pediatr. 95, 976-984.
128. Petruzzella, V., Moraes, C. T., Sano, M. C., Bonilla, E., DiMauro, S., and Schon, E. A. (1994). Hum. Mol. Genet. 3, 449-454.
129. Poulton, J., Deadman, M. E., and Gardiner, R. M. (1989). Nucleic Acids Res. 17, 10223-10229.
130. Poulton, J., Deadman, M. E., Bindoff, L., Morten, K., LAnd, J., and Brown, G. (1993). Hum. Mol. Genet. 2, 23-30.
131. Poulton, J., Morten, K. J., Marchington, D., Weber, K., Brown, K. G., Rötig, A., and Bindoff, L. (1995). Muscle Nerve Suppl. 3, S154-S158.
132. Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W.-Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M., and Fischel-Ghodsian, N. (1993). Nature Genet. 4, 289-294.
133. Reardon, W., Ross, R. J., Sweeney, M. G., Luxon, L. M., Harding, A. E., and Trembath, R. C. (1992). Lancet 340, 1376-1379.
134. Reid, F. M., Vernham, G. A., and Jacobs, H. T. (1994). Hum. Mutat. 3, 243-247.
135. Remes, A. M., Majamaa, K., Herva, R., and Hassinen, I. E. (1993). Neurology 43, 1015-1020.
136. Rötig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J.-M., Veerman, A., Pearson, H. A., and Munnich, A. (1991). Genomics 10, 502-504.
137. Rötig, A., Bessis, J.-L., Romero, N., Cormier, V., Saudubray, J.-M., Narcy, P., Lenoir, G., Rustin, P., and Munnich, A. (1992). Am. J. Hum. Genet. 50, 364-370.
138. Rötig, A., Bourgeron, T., Chretien, D., Rustin, P., and Munnich, A. (1995). Hum. Mol. Genet. 4, 1327-1330.
139. RowlAnd, L. P., Hays, A. P., DiMauro, S., DeVivo, D. C., and Behrens, M. (1983). In Mitochondrial Pathology in Muscle Diseases (Cerri, C., and Scarlato, G., eds.), Piccin Editore, Padua, pp. 141-158.
140. RowlAnd, L. P. (1994). In Mitochondrial Disorders in Neurology (Schapira, A. H. V., and DiMauro, S., eds.), Butterworth-Heinemann, Oxford, pp. 116-129.
141. Rummelt, V., Folberg, R., Ionasescu, V., Yi, H., and Moore, K. C. (1993). Ophthalmology 100, 1757-1766.
142. Sahashi, K., Ibi, T., Ohno, R., Tanaka, M., Tashiro, M., Marui, K., Nakao, N., and Ozawa, T. (1994). Muscle Nerve Suppl. 1, S139.
143. Saks, V. A., Khuchua, Z. A., Vasilyeva, E. V., Belikova, O. Y., and Kuznetsov, A. V. (1994). Mol. Cell. Biochem. 133/134, 155-192.
144. Sakuta, R., Goto, Y.-i., Nonaka, I., and Horai, S. (1993). Am. J. Hum. Genet. 53, 964-965.
145. Santorelli, F., Shanske, S., Macaya, A., DeVivo, D. C., and DiMauro, S. (1993). Ann. Neurol. 34, 827-834.
146. Santorelli, F. M., Shanske, S., Jain, K. D., Tick, D., Schon, E. A., and DiMauro, S. (1994). Neurology 44, 972-974.
147. Santorelli, F. M., Mak, S. C., Vazquez-Acevedo, M., Gonzalez-Astiazaran, A., Ridaura-Sanz, C., Gonzalez-Halphen, D., and DiMauro, S. (1995). Biochem. Biophys. Res. Commun. 216, 835-840.
148. Santorelli, F. M., Mak, S.-C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E., and DiMauro, S. (1996). Am. J. Hum. Genet. 58, 933-939.
149. Schon, E. A., Rizzuto, R., Moraes, C. T., Nakase, H., Zeviani, M., and DiMauro, S. (1989). Science 244, 346-349.
150. Schon, E. A., Bonilla, E., MirAnda, A. F., And DiMauro, S. (1991). In Molecular Genetic Approaches to Neuropsychiatric Disease (Brosius, J., and Fremeau, R., eds.), Academic Press, San Diego, pp. 57-80.
151. Schon, E. A., Koga, Y., Davidson, M., Moraes, C. T., and King, M. P. (1992). Biochim. Biophys. Acta 1101, 206-209.
152. Schon, E. A., Hirano, M., and DiMauro, S. (1994). J. Bioenerg. Biomembr. 26, 291-299.
153. Servidei, S., Zeviani, M., Manfredi, G., Ricci, E., Silvestri, G., Bertini, E., Gellera, C., DiMauro, S., DiDonato, S., and Tonali, P. (1991). Neurology 41, 1053-1059.
154. Shanske, S., Moraes, C. T., Lombes, A., MirAnda, A. F., Bonilla, E., Lewis, P., Whelan, M. A., Ellsworth, C. A., and DiMauro, S. (1990). Neurology 40, 24-28.
155. Shoffner, J. M., Lott, M. T., Lezza, A. M. S., Seibel, P., Ballinger, S. W., and Wallace, D. C. (1990). Cell 61, 931-937.
156. Shoffner, J. M., Bialer, M. G., Pavlakis, S. G., Lott, M., Kaufman, A., Dixon, J., Teichberg, S., and Wallace, D. C. (1995). Neurology 45, 286-292.
157. Silvestri, G., Moraes, C. T., Shanske, S., Oh, S. J., and DiMauro, S. (1992). Am. J. Hum. Genet. 51, 1213-1217.
158. Silvestri, G., Ciafaloni, E., Santorelli, F. M., Shanske, S., Servidei, S., Graf, W. D., Sumi, M., and DiMauro, S. (1993). Neurology 43, 1200-1206.
159. Silvestri, G., Santorelli, F. M., Shanske, S., Whitley, C. B., Schimmenti, L. A., Smith, S. A., and DiMauro, S. (1994). Hum. Mutat. 3, 37-43.
160. Silvestri, G., Servidei, S., Rana, M., Ricci, E., Spinazzola, A., Paris, E., and Tonali, P. (1996). Biochem. Biophys. Res. Commun. 220, 623-627.
161. Simon, V. R., Swayne, T. C., and Pon, L. A. (1995). J. Cell Biol. 130, 345-354.
162. Soejima, A., Inoue, K., Takai, D., Kaneko, M., Ishihara, H., Oka, Y., and Hayashi, J.-I. (1996). J. Biol. Chem. 271, 26194-26199.
163. Sparaco, M., Schon, E. A., DiMauro, S., and Bonilla, E. (1994). Brain Pathol. 5, 125-133.
164. Sprinzl, M., Hartmann, T., Weber, J., Blank, J., and Zeidler, R. (1989). Nucleic Acids Res. 17 Suppl., 1-172.
165. Sturmer, K., Baumann, O., and Walz, B. (1995). J. Cell Sci. 108, 2273-2283.
166. Superti-Furga, A., Schoenle, E., Tuchschmid, P., Caduff, R., Sabato, V., deMattia, D., Gitzelmann, R., and Steinmann, B. (1993). Eur. J. Pediatr. 152, 44-50.
167. Sweeney, M. G., Bundey, S., Brockington, M., Poulton, J. R., Weiner, J. B., and Harding, A. E. (1993). Q. J. Med. 86, 709-713.
168. Szabolcs, M. J., Seigle, R., Shanske, S., Bonilla, E., DiMauro, S., and D'Agati, V. (1994). Kidney Int. 45, 1388-1396.
169. Tamulevicius, P., and Streffer, C. (1995). Br. J. Cancer 72, 1102-1112.
170. Taniike, M., Fukushima, H., Yanagihara, I., Tsukamoto, H., Tanaka, J., Fujimura, H., Nagai, T., Sano, T., Yamaoka, K., Inui, K., And Okada, S. (1992). Biochem. Biophys. Res. Commun. 186, 47-53.
171. Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J. T. R., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R., and Robinson, B. H. (1992). Am. J. Hum. Genet. 50, 852-858.
172. Tatuch, Y., and Robinson, B. H. (1993). Biochem. Biophys. Res. Commun. 192, 124-128.
173. Taylor, R. W., Chinnery, P. F., Haldane, F., Morris, A. A. M., Bindoff, L. A. Wilson, J., and Turnbull, D. M. (1996). Ann. Neurol. 40, 459-462.
174. Thyagarajan, D., Shanske, S., Vasquez-Memije, M., DeVivo, D., and DiMauro, S. (1995). Ann. Neurol. 38, 468-472.
175. Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., GirlAnda, P., Carrara, F., Fratta, G. M., Reid, F. M., Mariotti, C., and Zeviani, M. (1995). Hum. Mol. Genet. 4, 1421-1427.
176. Trounce, I., Neill, S., and Wallace, D. C. (1994). Proc. Natl. Acad. Sci. USA 91, 8334-8338.
177. van den OuwelAnd, J. M. W., Bruining, G. J., Lindhout, D., Wit, J.-M., Veldhuyzen, B. F. E., and Maassen, J. A. (1992a). Nucleic Acids Res. 20, 679-682.
178. van den OuwelAnd, J. M. W., Lemkes, H. H. P. J., Ruitenbeek, W., SAndkuijl, L. A., de Vijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P., and Maassen, J. A. (1992b). Nature Genet. 1, 368-371.
179. Vazquez-Memije, M. E., Shanske, S., Santorelli, F. M., Kranz-Eble, P., Davidson, E., DeVivo, D. C., and DiMauro, S. (1996). J. Inher. Metab. Dis. 19, 43-50.
180. Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas II, L. J., and Nikoskelainen, E. K. (1988). Science 242, 1427-1430.
181. Wallimann, T., Wyss, M., Brdiczka, D., Nicolay, K., and Eppenberger, H. M. (1992). Biochem. J. 281, 21-40.
182. Weber, K., Wilson, J. N., Taylor, L., Brierley, E., Johnson, M. A., Turnbull, D. M., and Bindoff, L. A. (1997). Am. J. Hum. Genet. 60, 373-380.
183. Yoon, K. L., Aprille, J. R., and Ernst, S. G. (1991). Biochem. Biophys. Res. Commun. 176, 1112-1115.
184. Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E. A., and RowlAnd, L. P. (1988). Neurology 38, 1339-1346.
185. Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S., and DiDonato, S. (1989). Nature 339, 309-311.
186. Zeviani, M., Bresolin, N., Gellera, C., Bordoni, A., Pannacci, M., Amati, P., Moggio, M., Servidei, S., Scarlato, G., and DiDonato, S. (1990). Am. J. Hum. Genet. 47, 904-914.
187. Zeviani, M., Gellera, C., Antozzi, C., Rimoldi, M., MorAndi, L., Villani, F., Tiranti, V., and DiDonato, S. (1991). Lancet 338, 143-147.
188. Zeviani, M., Muntoni, F., Savarese, N., Serra, G., Tiranti, V., Carrara, F., Mariotti, C., and DiDonato, S. (1993). Eur. J. Hum. Genet. 1, 80-87.