-
1
-
-
38949105879
-
Phenotype and course of Hutchinson-Gilford progeria syndrome
-
DOI 10.1056/NEJMoa0706898
-
Merideth, M. A., L. B. Gordon, S. Clauss, V. Sachdev, A. C. Smith, M. B. Perry, C. C. Brewer, C. Zalewski, H. J. Kim, B. Solomon, et al. 2008. Phenotype and course of Hutchinson-Gilford progeria syndrome. N. Engl. J. Med. 358: 592-604. (Pubitemid 351214286)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.6
, pp. 592-604
-
-
Merideth, M.A.1
Gordon, L.B.2
Clauss, S.3
Sachdev, V.4
Smith, A.C.M.5
Perry, M.B.6
Brewer, C.C.7
Zalewski, C.8
Kim, H.J.9
Solomon, B.10
Brooks, B.P.11
Gerber, L.H.12
Turner, M.L.13
Domingo, D.L.14
Hart, T.C.15
Graf, J.16
Reynolds, J.C.17
Gropman, A.18
Yanovski, J.A.19
Gerhard-Herman, M.20
Collins, F.S.21
Nabel, E.G.22
Cannon III, R.O.23
Gahl, W.A.24
Introne, W.J.25
more..
-
2
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
DOI 10.1038/nature01629
-
Eriksson, M., W. T. Brown, L. B. Gordon, M. W. Glynn, J. Singer, L. Scott, M. R. Erdos, C. M. Robbins, T. Y. Moses, P. Berglund, et al. 2003. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 423: 293-298. (Pubitemid 40852699)
-
(2003)
Nature
, vol.423
, Issue.6937
, pp. 293-298
-
-
Eriksson, M.1
Brown, W.T.2
Gordon, L.B.3
Glynn, M.W.4
Singer, J.5
Scott, L.6
Erdos, M.R.7
Robbins, C.M.8
Moses, T.Y.9
Berglund, P.10
Dutra, A.11
Pak, E.12
Durkin, S.13
Csoka, A.B.14
Boehnke, M.15
Glover, T.W.16
Collins, F.S.17
-
3
-
-
10744229294
-
Lamin A truncation in Hutchinson-Gilford progeria
-
DOI 10.1126/science.1084125
-
De Sandre-Giovannoli, A., R. Bernard, P. Cau, C. Navarro, J. Amiel, I. Boccaccio, S. Lyonnet, C. L. Stewart, A. Munnich, M. Le Merrer, et al. 2003. Lamin a truncation in Hutchinson-Gilford progeria. Science. 300: 2055. (Pubitemid 36760124)
-
(2003)
Science
, vol.300
, Issue.5628
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
Bernard, R.2
Cau, P.3
Navarro, C.4
Amiel, J.5
Boccaccio, I.6
Lyonnet, S.7
Stewart, C.L.8
Munnich, A.9
Le Merrer, M.10
Levy, N.11
-
4
-
-
34249788998
-
"Laminopathies": A wide spectrum of human diseases
-
DOI 10.1016/j.yexcr.2007.03.028, PII S0014482707001279
-
Worman, H. J., and G. Bonne. 2007. " Laminopathies ": a wide spectrum of human diseases. Exp. Cell Res. 313: 2121-2133. (Pubitemid 46850729)
-
(2007)
Experimental Cell Research
, vol.313
, Issue.10
, pp. 2121-2133
-
-
Worman, H.J.1
Bonne, G.2
-
5
-
-
0027257461
-
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
-
Lin, F., and H. J. Worman. 1993. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem. 268: 16321-16326. (Pubitemid 23229934)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.22
, pp. 16321-16326
-
-
Lin, F.1
Worman, H.J.2
-
6
-
-
30844434561
-
Prelamin A, Zmpste24, misshapen cell nuclei, and progeria - New evidence suggesting that protein farnesylation could be important for disease pathogenesis
-
DOI 10.1194/jlr.R500011-JLR200
-
Young, S. G., L. G. Fong, and S. Michaelis. 2005. Prelamin A, Zmpste24, misshapen cell nuclei, and progeria-new evidence suggesting that protein farnesylation could be important for disease pathogenesis. J. Lipid Res. 46: 2531-2558. (Pubitemid 43107466)
-
(2005)
Journal of Lipid Research
, vol.46
, Issue.12
, pp. 2531-2558
-
-
Young, S.G.1
Fong, L.G.2
Michaelis, S.3
-
7
-
-
33748760066
-
Farnesylated lamins, prog-eroid syndromes and farnesyl transferase inhibitors
-
Rusiñol, A. E., and M. S. Sinensky. 2006. Farnesylated lamins, prog-eroid syndromes and farnesyl transferase inhibitors. J. Cell Sci. 119: 3265-3272.
-
(2006)
J. Cell Sci
, vol.119
, pp. 3265-3272
-
-
Rusiñol, A.E.1
Sinensky., M.S.2
-
8
-
-
0036791026
-
Zmpste24 defi ciency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect
-
Bergo, M. O., B. Gavino, J. Ross, W. K. Schmidt, C. Hong, L. V. Kendall, A. Mohr, M. Meta, H. Genant, Y. Jiang, et al. 2002. Zmpste24 defi ciency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect. Proc. Natl. Acad. Sci. USA. 99: 13049-13054.
-
(2002)
Proc. Natl. Acad. Sci. USA.
, vol.99
, pp. 13049-13054
-
-
Bergo, M.O.1
Gavino, B.2
Ross, J.3
Schmidt, W.K.4
Hong, C.5
Kendall, L.V.6
Mohr, A.7
Meta, M.8
Genant, H.9
Jiang, Y.10
-
9
-
-
0036578920
-
Defective prelamin A processing and muscular and ad-ipocyte alterations in Zmpste24 metalloproteinase-defi cient mice
-
Pendás, A. M., Z. Zhou, J. Cadiñanos, J. M. Freije, J. Wang, K. Hultenby, A. Astudillo, A. Wernerson, F. Rodríguez, K. Tryggvason, et al. 2002. Defective prelamin A processing and muscular and ad-ipocyte alterations in Zmpste24 metalloproteinase-defi cient mice. Nat. Genet. 31: 94-99.
-
(2002)
Nat. Genet.
, vol.31
, pp. 94-99
-
-
Pendás, A.M.1
Zhou, Z.2
Cadiñanos, J.3
Freije, J.M.4
Wang, J.5
Hultenby, K.6
Astudillo, A.7
Wernerson, A.8
Rodríguez, F.9
Tryggvason, K.10
-
10
-
-
19944428509
-
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice
-
DOI 10.1073/pnas.0408558102
-
Fong, L. G., J. K. Ng, M. Meta, N. Coté, S. H. Yang, C. L. Stewart, T. Sullivan, A. Burghardt, S. Majumdar, K. Reue, et al. 2004. Heterozygosity for Lmna defi ciency eliminates the progeria-like phenotypes in Zmpste24-defi cient mice. Proc. Natl. Acad. Sci. USA. 101: 18111-18116. (Pubitemid 40054082)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.52
, pp. 18111-18116
-
-
Fong, L.G.1
Ng, J.K.2
Meta, M.3
Cote, N.4
Yang, S.H.5
Stewart, C.L.6
Sullivan, T.7
Burghardt, A.8
Majumdar, S.9
Reue, K.10
Bergo, M.O.11
Young, S.G.12
-
11
-
-
22544440839
-
Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation
-
DOI 10.1073/pnas.0504641102
-
Yang, S. H., M. O. Bergo, J. I. Toth, X. Qiao, Y. Hu, S. Sandoval, M. Meta, P. Bendale, M. H. Gelb, S. G. Young, et al. 2005. Blocking protein farnesyltransferase improves nuclear blebbing in mouse fi broblasts with a targeted Hutchinson-Gilford progeria syndrome mutation. Proc. Natl. Acad. Sci. USA. 102: 10291-10296. (Pubitemid 41023365)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.29
, pp. 10291-10296
-
-
Yang, S.H.1
Bergo, M.O.2
Toth, J.I.3
Qiao, X.4
Hu, Y.5
Sandoval, S.6
Meta, M.7
Bendale, P.8
Gelb, M.H.9
Young, S.G.10
Fong, L.G.11
-
12
-
-
33746715642
-
Treatment with a proteinfarnesyltransferase inhibitor improves disease phenotypes in mice with a targeted Hutchinson-Gilford prog-eria syndrome mutation
-
Yang, S. H., M. Meta, X. Qiao, D. Frost, J. Bauch, C. Coffi nier, S. Majumdar, M. O. Bergo, S. G. Young, and L. G. Fong. 2006. Treatment with a proteinfarnesyltransferase inhibitor improves disease phenotypes in mice with a targeted Hutchinson-Gilford prog-eria syndrome mutation. J. Clin. Invest. 116: 2115-2121.
-
(2006)
J. Clin. Invest.
, vol.116
, pp. 2115-2121
-
-
Yang, S.H.1
Meta, M.2
Qiao, X.3
Frost, D.4
Bauch, J.5
Coffi Nier, C.6
Majumdar, S.7
Bergo, M.O.8
Young, S.G.9
Fong., L.G.10
-
13
-
-
24644459728
-
Blocking protein farnesyltransferase improves nuclear shape in fi broblasts from humans with progeroid syndromes
-
Toth, J. I., S. H. Yang, X. Qiao, A. P. Beigneux, M. H. Gelb, C. L. Moulson, J. H. Miner, S. G. Young, and L. G. Fong. 2005. Blocking protein farnesyltransferase improves nuclear shape in fi broblasts from humans with progeroid syndromes. Proc. Natl. Acad. Sci. USA. 102: 12873-12878.
-
(2005)
Proc. Natl. Acad. Sci. USA.
, vol.102
, pp. 12873-12878
-
-
Toth, J.I.1
Yang, S.H.2
Qiao, X.3
Beigneux, A.P.4
Gelb, M.H.5
Moulson, C.L.6
Miner, J.H.7
Young, S.G.8
Fong., L.G.9
-
14
-
-
24644520772
-
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome
-
Capell, B. C., M. R. Erdos, J. P. Madigan, J. J. Fiordalisi, R. Varga, K. N. Conneely, L. B. Gordon, C. J. Der, A. D. Cox, and F. S. Collins. 2005. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc. Natl. Acad. Sci. USA. 102: 12879-12884.
-
(2005)
Proc. Natl. Acad. Sci. USA.
, vol.102
, pp. 12879-12884
-
-
Capell, B.C.1
Erdos, M.R.2
Madigan, J.P.3
Fiordalisi, J.J.4
Varga, R.5
Conneely, K.N.6
Gordon, L.B.7
Der, C.J.8
Cox, A.D.9
Collins., F.S.10
-
15
-
-
27544498316
-
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition
-
Glynn, M. W., and T. W. Glover. 2005. Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. Hum. Mol. Genet. 14: 2959-2969.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2959-2969
-
-
Glynn, M.W.1
Glover., T.W.2
-
16
-
-
33645060977
-
A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria
-
Fong, L. G., D. Frost, M. Meta, X. Qiao, S. H. Yang, C. Coffi nier, and S. G. Young. 2006. A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria. Science. 311: 1621-1623.
-
(2006)
Science.
, vol.311
, pp. 1621-1623
-
-
Fong, L.G.1
Frost, D.2
Meta, M.3
Qiao, X.4
Yang, S.H.5
Coffinier, S.G.6
Young., C.7
-
17
-
-
57349159315
-
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model
-
Capell, B. C., M. Olive, M. R. Erdos, K. Cao, D. A. Faddah, U. L. Tavarez, K. N. Conneely, X. Qu, H. San, S. K. Ganesh, et al. 2008. A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model. Proc. Natl. Acad. Sci. USA. 105: 15902-15907.
-
(2008)
Proc. Natl. Acad. Sci. USA.
, vol.105
, pp. 15902-15907
-
-
Capell, B.C.1
Olive, M.2
Erdos, M.R.3
Cao, K.4
Faddah, D.A.5
Tavarez, U.L.6
Conneely, K.N.7
Qu, X.8
San, H.9
Ganesh, S.K.10
-
18
-
-
55849129996
-
Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated
-
Yang, S. H., D. A. Andres, H. P. Spielmann, S. G. Young, and L. G. Fong. 2008. Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated. J. Clin. Invest. 118: 3291-3300.
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 3291-3300
-
-
Yang, S.H.1
Andres, D.A.2
Spielmann, H.P.3
Young, S.G.4
Fong., L.G.5
-
19
-
-
77949527805
-
Assessing the effi cacy of protein farnesyltransferase inhibitors in mouse models of progeria
-
Yang, S. H., S. Y. Chang, D. A. Andres, H. P. Spielmann, S. G. Young, and L. G. Fong. 2010. Assessing the effi cacy of protein farnesyltransferase inhibitors in mouse models of progeria. J. Lipid Res. 51: 400-405.
-
(2010)
J. Lipid Res.
, vol.51
, pp. 400-405
-
-
Yang, S.H.1
Chang, S.Y.2
Andres, D.A.3
Spielmann, H.P.4
Young, S.G.5
Fong., L.G.6
-
20
-
-
53349160341
-
Highlights of the 2007 Progeria Research Foundation scientifi c workshop: Progress in translational science
-
Gordon, L. B., C. J. Harling-Berg, and F. G. Rothman. 2007. Highlights of the 2007 Progeria Research Foundation scientifi c workshop: progress in translational science. J. Gerontol. A Biol. Sci. Med. Sci. 63: 777-787.
-
(2007)
J. Gerontol. A Biol. Sci. Med. Sci.
, vol.63
, pp. 777-787
-
-
Gordon, L.B.1
Harling-Berg, C.J.2
Rothman., F.G.3
-
21
-
-
46849106102
-
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging
-
Varela, I., S. Pereira, A. P. Ugalde, C. L. Navarro, M. F. Suárez, P. Cau, J. Cadiñanos, F. G. Osorio, N. Foray, J. Cobo, et al. 2008. Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nat. Med. 14: 767-772.
-
(2008)
Nat. Med.
, vol.14
, pp. 767-772
-
-
Varela, I.1
Pereira, S.2
Ugalde, A.P.3
Navarro, C.L.4
Suárez, M.F.5
Cau, P.6
Cadiñanos, J.7
Osorio, F.G.8
Foray, N.9
Cobo, J.10
|