-
1
-
-
0041919374
-
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
-
Agarwal, A. K., Fryns, J. P., Auchus, R. J. and Garg, A. (2003). Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum. Mol. Genet. 12, 1995-2001.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1995-2001
-
-
Agarwal, A.K.1
Fryns, J.P.2
Auchus, R.J.3
Garg, A.4
-
2
-
-
0036791026
-
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect
-
Bergo, M. O., Gavino, B., Ross, J., Schmidt, W. K., Hong, C., Kendall, L. V., Mohr, A., Meta, M., Genant, H., Jiang, Y. et al. (2002). Zmpste24 deficiency 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
-
3
-
-
2342644879
-
Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis
-
Bridger, J. M. and Kill, I. R. (2004). Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis. Exp. Gerontol. 39 717-724.
-
(2004)
Exp. Gerontol.
, vol.39
, pp. 717-724
-
-
Bridger, J.M.1
Kill, I.R.2
-
4
-
-
0030839323
-
A- and B-type lamins are differentially expressed in normal human tissues
-
Broers, J. L., Machiels, B. M., Kuijpers, H. J., Smedts, F., van den Kieboom, R., Raymond, Y. and Ramaekers, F. C. (1997). A- and B-type lamins are differentially expressed in normal human tissues. Histochem. Cell Biol. 107, 505-517.
-
(1997)
Histochem. Cell Biol.
, vol.107
, pp. 505-517
-
-
Broers, J.L.1
Machiels, B.M.2
Kuijpers, H.J.3
Smedts, F.4
van den Kieboom, R.5
Raymond, Y.6
Ramaekers, F.C.7
-
5
-
-
0036347096
-
Life at the edge: The nuclear envelope and human disease
-
Burke, B. and Stewart, C. L. (2002). Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol. 3, 575-585.
-
(2002)
Nat. Rev. Mol. Cell Biol.
, vol.3
, pp. 575-585
-
-
Burke, B.1
Stewart, C.L.2
-
6
-
-
0038376023
-
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
-
Cao, H. and Hegele, R. A. (2003). LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J. Hum. Genet. 48, 271-274.
-
(2003)
J. Hum. Genet.
, vol.48
, pp. 271-274
-
-
Cao, H.1
Hegele, R.A.2
-
7
-
-
0042736696
-
LMNA mutations in atypical Werner's syndrome
-
Chen, L., Lee, L., Kudlow, B. A., Dos Santos, H. G., Sletvold, O., Shafeghati, Y., Botha, E. G., Garg, A., Hanson, N. B., Martin, G. M. et al. (2003). LMNA mutations in atypical Werner's syndrome. Lancet 362, 440-445.
-
(2003)
Lancet
, vol.362
, pp. 440-445
-
-
Chen, L.1
Lee, L.2
Kudlow, B.A.3
Dos Santos, H.G.4
Sletvold, O.5
Shafeghati, Y.6
Botha, E.G.7
Garg, A.8
Hanson, N.B.9
Martin, G.M.10
-
8
-
-
10744229294
-
Lamin a truncation in Hutchinson-Gilford progeria
-
De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C. L., Munnich, A., le Merrer, M. et al. (2003). Lamin a truncation in Hutchinson-Gilford progeria. Science 300, 2055.
-
(2003)
Science
, vol.300
, 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
-
9
-
-
0035942736
-
Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells
-
Elbashir, S. M., Harborth, J., Lendeckel, W., Yalcin, A., Weber, K. and Tuschl, T. (2001). Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature 411 494-498.
-
(2001)
Nature
, vol.411
, pp. 494-498
-
-
Elbashir, S.M.1
Harborth, J.2
Lendeckel, W.3
Yalcin, A.4
Weber, K.5
Tuschl, T.6
-
10
-
-
0036351317
-
Analysis of gene function in somatic mammalian cells using small interfering RNAs
-
Elbashir, S. M., Harborth, J., Weber, K. and Tuschl, T. (2002). Analysis of gene function in somatic mammalian cells using small interfering RNAs. Methods 26, 199-213.
-
(2002)
Methods
, vol.26
, pp. 199-213
-
-
Elbashir, S.M.1
Harborth, J.2
Weber, K.3
Tuschl, T.4
-
11
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J., Scott, L., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P. et al. (2003). Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423, 293-298.
-
(2003)
Nature
, vol.423
, 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
-
12
-
-
0018840796
-
The nuclear envelope lamina is reversibly depolymerized during mitosis
-
Gerace, L. and Blobel, G. (1980). The nuclear envelope lamina is reversibly depolymerized during mitosis. Cell 19, 277-287.
-
(1980)
Cell
, vol.19
, pp. 277-287
-
-
Gerace, L.1
Blobel, G.2
-
13
-
-
0036500259
-
Nuclear lamins: Building blocks of nuclear architecture
-
Goldman, R. D., Gruenbaum, Y., Moir, R. D., Shumaker, D. K. and Spann, T. P. (2002). Nuclear lamins: building blocks of nuclear architecture. Genes Dev. 16, 533-547.
-
(2002)
Genes Dev.
, vol.16
, pp. 533-547
-
-
Goldman, R.D.1
Gruenbaum, Y.2
Moir, R.D.3
Shumaker, D.K.4
Spann, T.P.5
-
14
-
-
2942643923
-
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome
-
Goldman, R. D., Shumaker, D. K., Erdos, M. R., Eriksson, M., Goldman, A. E., Gordon, L. B., Gruenbaum, Y., Khuon, S., Mendez, M., Varga, R. et al. (2004). Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc. Natl. Acad. Sci. USA 101, 8963-8968.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 8963-8968
-
-
Goldman, R.D.1
Shumaker, D.K.2
Erdos, M.R.3
Eriksson, M.4
Goldman, A.E.5
Gordon, L.B.6
Gruenbaum, Y.7
Khuon, S.8
Mendez, M.9
Varga, R.10
-
15
-
-
0035694237
-
Identification of essential genes in cultured mammalian cells using small interfering RNAs
-
Harborth, J., Elbashir, S. M., Bechert, K., Tuschl, T. and Weber, K. (2001). Identification of essential genes in cultured mammalian cells using small interfering RNAs. J. Cell Sci. 114 4557-4565.
-
(2001)
J. Cell Sci.
, vol.114
, pp. 4557-4565
-
-
Harborth, J.1
Elbashir, S.M.2
Bechert, K.3
Tuschl, T.4
Weber, K.5
-
16
-
-
0028274845
-
The role of isoprenylation in membrane attachment of nuclear lamins. A single point mutation prevents proteolytic cleavage of the lamin A precursor and confers membrane binding properties
-
Hennekes, H. and Nigg, E. A. (1994). The role of isoprenylation in membrane attachment of nuclear lamins. A single point mutation prevents proteolytic cleavage of the lamin A precursor and confers membrane binding properties. J. Cell Sci. 107, 1019-1029.
-
(1994)
J. Cell Sci.
, vol.107
, pp. 1019-1029
-
-
Hennekes, H.1
Nigg, E.A.2
-
17
-
-
0021678736
-
Electroblotting of multiple gels: A simple apparatus without buffer tank for rapid transfer of proteins from polyacrylamide to nitrocellulose
-
Kyhse-Andersen, J. (1984). Electroblotting of multiple gels: a simple apparatus without buffer tank for rapid transfer of proteins from polyacrylamide to nitrocellulose. J. Biochem. Biophys. Methods 10, 203-209.
-
(1984)
J. Biochem. Biophys. Methods
, vol.10
, pp. 203-209
-
-
Kyhse-Andersen, J.1
-
18
-
-
0033939554
-
Review: The dynamics of the nuclear lamins during the cell cycle - Relationship between structure and function
-
Moir, R. D., Spann, T. P., Lopez-Soler, R. I., Yoon, M., Goldman, A. E., Klmon, S. and Goldman, R. D. (2000). Review: the dynamics of the nuclear lamins during the cell cycle - relationship between structure and function. J. Struct. Biol. 129, 324-334.
-
(2000)
J. Struct. Biol.
, vol.129
, pp. 324-334
-
-
Moir, R.D.1
Spann, T.P.2
Lopez-Soler, R.I.3
Yoon, M.4
Goldman, A.E.5
Klmon, S.6
Goldman, R.D.7
-
19
-
-
0037674654
-
The laminopathies: Nuclear structure meets disease
-
Mounkes, L., Kozlov, S., Burke, B. and Stewart, C. L. (2003). The laminopathies: nuclear structure meets disease. Curr. Opin. Genet. Dev. 13, 223-230.
-
(2003)
Curr. Opin. Genet. Dev.
, vol.13
, pp. 223-230
-
-
Mounkes, L.1
Kozlov, S.2
Burke, B.3
Stewart, C.L.4
-
20
-
-
19544374472
-
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
-
Navarro, C. L., de Sandre-Giovannoli, A., Bernard, R., Boccaccio, I., Boyer, A., Genevieve, D., Hadj-Rabia, S., Gaudy-Marqueste, C., Smitt, H. S., Vabres, P. et al. (2004). Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum. Mol. Genet. 13 2493-2503.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2493-2503
-
-
Navarro, C.L.1
de Sandre-Giovannoli, A.2
Bernard, R.3
Boccaccio, I.4
Boyer, A.5
Genevieve, D.6
Hadj-Rabia, S.7
Gaudy-Marqueste, C.8
Smitt, H.S.9
Vabres, P.10
-
21
-
-
12244293441
-
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
-
Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D'Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R. et al. (2002). Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am. J. Hum. Genet. 71, 426-431.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 426-431
-
-
Novelli, G.1
Muchir, A.2
Sangiuolo, F.3
Helbling-Leclerc, A.4
D'Apice, M.R.5
Massart, C.6
Capon, F.7
Sbraccia, P.8
Federici, M.9
Lauro, R.10
-
22
-
-
0036578920
-
Defective prelatnin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice
-
Pendas, A. M., Zhou, Z., Cadinanos, J., Freije, J. M., Wang, J., Hultenby, K., Astudillo, A., Wernerson, A., Rodriguez, F., Tryggvason, K. et al. (2002). Defective prelatnin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat. Genet. 31, 94-99.
-
(2002)
Nat. Genet.
, vol.31
, pp. 94-99
-
-
Pendas, A.M.1
Zhou, Z.2
Cadinanos, J.3
Freije, J.M.4
Wang, J.5
Hultenby, K.6
Astudillo, A.7
Wernerson, A.8
Rodriguez, F.9
Tryggvason, K.10
-
23
-
-
0024561417
-
Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: A developmental study
-
Röber, R. A., Weber, K. and Osborn, M. (1989). Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study. Development 105, 365-378.
-
(1989)
Development
, vol.105
, pp. 365-378
-
-
Röber, R.A.1
Weber, K.2
Osborn, M.3
-
24
-
-
0028118904
-
The processing pathway of prelamin A
-
Sinensky, M., Fantle, K., Trujillo, M., McLain, T., Kupfer, A. and Dalton, M. (1994). The processing pathway of prelamin A. J. Cell Sci. 107, 61-67.
-
(1994)
J. Cell Sci.
, vol.107
, pp. 61-67
-
-
Sinensky, M.1
Fantle, K.2
Trujillo, M.3
McLain, T.4
Kupfer, A.5
Dalton, M.6
-
25
-
-
0033615969
-
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
-
Sullivan, T., Escalante-Alcalde, D., Bhatt, H., Anver, M., Bhat, N., Nagashima, K., Stewart, C. L. and Burke, B. (1999). Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J. Cell Biol. 147, 913-920.
-
(1999)
J. Cell Biol.
, vol.147
, pp. 913-920
-
-
Sullivan, T.1
Escalante-Alcalde, D.2
Bhatt, H.3
Anver, M.4
Bhat, N.5
Nagashima, K.6
Stewart, C.L.7
Burke, B.8
-
26
-
-
0031874938
-
Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing
-
Tam, A., Nouvet, F. J., Fujimura-Kamada, K., Slunt, H., Sisodia, S. S. and Michaelis, S. (1998). Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing. J. Cell Biol. 142, 635-649.
-
(1998)
J. Cell Biol.
, vol.142
, pp. 635-649
-
-
Tam, A.1
Nouvet, F.J.2
Fujimura-Kamada, K.3
Slunt, H.4
Sisodia, S.S.5
Michaelis, S.6
-
27
-
-
0021748350
-
Localization of endoplasmic reticulum in living and glutaraldehyde-fixed cells with fluorescent dyes
-
Terasaki, M., Song, J., Wong, J. R., Weiss, M. J. and Chen, L. B. (1984). Localization of endoplasmic reticulum in living and glutaraldehyde-fixed cells with fluorescent dyes. Cell 38 101-108.
-
(1984)
Cell
, vol.38
, pp. 101-108
-
-
Terasaki, M.1
Song, J.2
Wong, J.R.3
Weiss, M.J.4
Chen, L.B.5
-
28
-
-
0030945294
-
Regulation of insulin preRNA splicing by glucose
-
Wang, J., Shen, L., Najafi, H., Kolberg, J., Matschinsky, F. M., Urdea, M. and German, M. (1997). Regulation of insulin preRNA splicing by glucose. Proc. Natl. Acad. Sci. USA 94, 4360-4365.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 4360-4365
-
-
Wang, J.1
Shen, L.2
Najafi, H.3
Kolberg, J.4
Matschinsky, F.M.5
Urdea, M.6
German, M.7
-
29
-
-
0024828257
-
Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; Implications for the structure of the nuclear lamina
-
Weber, IL, Plessmann, U. and Traub, P. (1989). Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina. FEBS Lett. 257, 411-414.
-
(1989)
FEBS Lett.
, vol.257
, pp. 411-414
-
-
Weber, I.L.1
Plessmann, U.2
Traub, P.3
|