In vivo studies of mutant fibrillin-1 microfibrils

Journal of Biological Chemistry

Volumn 285, Issue 32, 2010, Pages 24943-24955

  Charbonneau, Noe L ^a   Carlson, Eric J ^a   Tufa, Sara ^a   Sengle, Gerhard ^b   Manalo, Elise C ^b   Carlberg, Valerie M ^b   Ramirez, Francesco ^c   Keene, Douglas R ^a   Sakai, Lynn Y ^a,b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

VISUALIZATION;

CLINICAL FEATURES; FIBRILLIN-1; FIBRILLIN-2; GENETIC DISORDERS; GREEN FLUORESCENT PROTEIN; HETEROZYGOSITY; HYBRID DOMAIN; IMMUNOREACTIVITIES; IN-VIVO; MARFAN SYNDROME; MICRO-FIBRILS; MICROFIBRIL; MICROFIBRIL ASSEMBLY; MICROFIBRIL STRUCTURE; MUTANT MICE; PRIMARY EFFECTS; WILD TYPES;

BLOOD VESSELS;

FIBRILLIN 1; FIBRILLIN 2; GENOMIC DNA; GREEN FLUORESCENT PROTEIN; ACTIN BINDING PROTEIN; FIBRILLIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CELL AGGREGATION; CELL DEGENERATION; CELL STRUCTURE; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; FIBER; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; IMMUNOREACTIVITY; LAMELLAR BODY; MARFAN SYNDROME; MOUSE; MOUSE MUTANT; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SKIN; SKIN FIBROBLAST; ALLELE; ANIMAL; BIOLOGICAL MODEL; CHEMISTRY; ELECTRON MICROSCOPY; EXTRACELLULAR MATRIX; GENETICS; GENOTYPE; HUMAN; METABOLISM; MUTATION; PROCEDURES; TRANSGENIC MOUSE;

ALLELES; ANIMALS; EXTRACELLULAR MATRIX; GENE DELETION; GENOTYPE; HUMANS; MARFAN SYNDROME; MICE; MICE, TRANSGENIC; MICROFIBRILS; MICROFILAMENT PROTEINS; MICROSCOPY, ELECTRON; MODELS, GENETIC; MUTATION;

EID: 77955297956     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M110.130021     Document Type: Article

References (33)

1. Sakai, L. Y., Keene, D. R., and Engvall, E. (1986) J. Cell Biol. 103, 2499-2509
2. Zhang, H., Apfelroth, S. D., Hu, W., Davis, E. C., Sanguineti, C., Bonadio, J., Mecham, R. P., and Ramirez, F. (1994) J. Cell Biol. 124, 855-863
3. Corson, G. M., Charbonneau, N. L., Keene, D. R., and Sakai, L. Y. (2004) Genomics 83, 461-472
4. Isogai, Z., Ono, R. N., Ushiro, S., Keene, D. R., Chen, Y., Mazzieri, R., Charbonneau, N. L., Reinhardt, D. P., Rifkin, D. B., and Sakai, L. Y. (2003) J. Biol. Chem. 278, 2750-2757
5. Gregory, K. E., Ono, R. N., Charbonneau, N. L., Kuo, C. L., Keene, D. R., Bächinger, H. P., and Sakai, L. Y. (2005) J. Biol. Chem. 280, 27970-27980
6. Sengle, G., Charbonneau, N. L., Ono, R. N., Sasaki, T., Alvarez, J., Keene, D. R., Bächinger, H. P., and Sakai, L. Y. (2008) J. Biol. Chem. 283, 13874-13888
7. Faivre, L., Collod-Beroud, G., Loeys, B. L., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Marziliano, N., Dietz, H. C., Halliday, D., Beroud, C., Bonithon-Kopp, C., Claustres, M., Muti, C., Plauchu, H., Robinson, P. N., Adès, L. C., Biggin, A., Benetts, B., Brett, M., Holman, K. J., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Jondeau, G., and Boileau, C. (2007) Am. J. Hum. Genet. 81, 454-466
8. Pereira, L., Lee, S. Y., Gayraud, B., Andrikopoulos, K., Shapiro, S. D., Bunton, T., Biery, N. J., Dietz, H. C., Sakai, L. Y., and Ramirez, F. (1999) Proc. Natl. Acad. Sci. U.S.A. 96, 3819-3823
9. Judge, D. P., Biery, N. J., Keene, D. R., Geubtner, J., Myers, L., Huso, D. L., Sakai, L. Y., and Dietz, H. C. (2004) J. Clin. Invest. 114, 172-181
10. Neptune, E. R., Frischmeyer, P. A., Arking, D. E., Myers, L., Bunton, T. E., Gayraud, B., Ramirez, F., Sakai, L. Y., and Dietz, H. C. (2003) Nat. Genet. 33, 407-411
11. Habashi, J. P., Judge, D. P., Holm, T. M., Cohn, R. D., Loeys, B. L., Cooper, T. K., Myers, L., Klein, E. C., Liu, G., Calvi, C., Podowski, M., Neptune, E. R., Halushka, M. K., Bedja, D., Gabrielson, K., Rifkin, D. B., Carta, L., Ramirez, F., Huso, D. L., and Dietz, H. C. (2006) Science 312, 117-121
12. Dietz, H. C., McIntosh, I., Sakai, L. Y., Corson, G. M., Chalberg, S. C., Pyeritz, R. E., and Francomano, C. A. (1993) Genomics 17, 468-475
13. Eldadah, Z. A., Brenn, T., Furthmayr, H., and Dietz, H. C. (1995) J. Clin. Invest. 95, 874-880
14. Reinhardt, D. P., Mechling, D. E., Boswell, B. A., Keene, D. R., Sakai, L. Y., and Bächinger, H. P. (1997) J. Biol. Chem. 272, 7368-7373
15. Reinhardt, D. P., Ono, R. N., Notbohm, H., Müller, P. K., Bächinger, H. P., and Sakai, L. Y. (2000) J. Biol. Chem. 275, 12339-12345
16. Aoyama, T., Francke, U., Dietz, H. C., and Furthmayr, H. (1994) J. Clin. Invest. 94, 130-137
17. Pereira, L., Andrikopoulos, K., Tian, J., Lee, S. Y., Keene, D. R., Ono, R., Reinhardt, D. P., Sakai, L. Y., Biery, N. J., Bunton, T., Dietz, H. C., and Ramirez, F. (1997) Nat. Genet. 17, 218-222
18. Carta, L., Pereira, L., Arteaga-Solis, E., Lee-Arteaga, S. Y., Lenart, B., Starcher, B., Merkel, C. A., Sukoyan, M., Kerkis, A., Hazeki, N., Keene, D. R., Sakai, L. Y., and Ramirez, F. (2006) J. Biol. Chem. 281, 8016-8023
19. Arteaga-Solis, E., Gayraud, B., Lee, S. Y., Shum, L., Sakai, L., and Ramirez, F. (2001) J. Cell Biol. 154, 275-281
20. Livak, K. J., and Schmittgen, T. D. (2001) Methods 25, 402-408
21. Charbonneau, N. L., Dzamba, B. J., Ono, R. N., Keene, D. R., Corson, G. M., Reinhardt, D. P., and Sakai, L. Y. (2003) J. Biol. Chem. 278, 2740-2749
22. Reinhardt, D. P., Keene, D. R., Corson, G. M., Pöschl, E., Bächinger, H. P., Gambee, J. E., and Sakai, L. Y. (1996) J. Mol. Biol. 258, 104-116
23. Keene, D. R., Maddox, B. K., Kuo, H. J., Sakai, L. Y., and Glanville, R. W. (1991) J. Histochem. Cytochem. 39, 441-449
24. Ono, R. N., Sengle, G., Charbonneau, N. L., Carlberg, V., Bächinger, H. P., Sasaki, T., Lee-Arteaga, S., Zilberberg, L., Rifkin, D. B., Ramirez, F., Chu, M. L., and Sakai, L. Y. (2009) J. Biol. Chem. 284, 16872-16881
25. Sakai, L. Y., and Keene, D. R. (1994) Methods Enzymol. 245, 29-52
26. Dingemans, K. P., Teeling, P., Lagendijk, J. H., and Becker, A. E. (2000) Anat. Rec. 258, 1-14
27. Charbonneau, N. L., Jordan, C. D., Keene, D. R., Lee-Arteaga, S., Dietz, H. C., Rifkin, D. B., Ramirez, F., and Sakai, L. Y. (2010) J. Biol. Chem. 285, 20242-20251
28. Kuo, C. L., Isogai, Z., Keene, D. R., Hazeki, N., Ono, R. N., Sengle, G., Bächinger, H. P., and Sakai, L. Y. (2007) J. Biol. Chem. 282, 4007-4020
29. Reinhardt, D. P., Gambee, J. E., Ono, R. N., Bächinger, H. P., and Sakai, L. Y. (2000) J. Biol. Chem. 275, 2205-2210
30. Hollister, D. W., Godfrey, M., Sakai, L. Y., and Pyeritz, R. E. (1990) N. Engl. J. Med. 323, 152-159
31. Loeys, B. L., Gerber, E. E., Riegert-Johnson, D., Iqbal, S., Whiteman, P., Mc-Connell, V., Chillakuri, C. R., Macaya, D., Coucke, P. J., De Paepe, A., Judge, D. P., Wigley, F., Davis, E. C., Mardon, H. J., Handford, P., Keene, D. R., Sakai, L. Y., and Dietz, H. C. (2010) Science Transl. Med. 2, 23ra20
32. Putnam, E. A., Cho, M., Zinn, A. B., Towbin, J. A., Byers, P. H., and Milewicz, D. M. (1996) Am. J. Med. Genet. 62, 233-242
33. Siracusa, L. D., McGrath, R., Ma, Q., Moskow, J. J., Manne, J., Christner, P. J., Buchberg, A. M., and Jimenez, S. A. (1996) Genome Res. 6, 300-313