-
1
-
-
0027985787
-
Identification of a novel X- linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, et al. Identification of a novel X- linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-7.
-
(1994)
Nat Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
-
2
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-8.
-
(1999)
Nat Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
Becane, H.M.4
Hammouda, E.H.5
Merlini, L.6
-
3
-
-
33645457559
-
Emery-Dreifuss muscular dystrophy
-
New York, McGraw-Hill
-
Maraldi NM, Merlini L. Emery-Dreifuss muscular dystrophy. In: Myology, AG Engel, C Franzini-Armstrong (eds.). New York: McGraw-Hill, 2004, pp. 1027-38.
-
(2004)
Myology
, pp. 1027-1038
-
-
Maraldi, N.M.1
Merlini, L.2
-
4
-
-
0033927867
-
Different mutations in the LMNA gene cause autoso-mal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
-
Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi Lx, etal. Different mutations in the LMNA gene cause autoso-mal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000;66:1407-12.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1407-1412
-
-
Di Barletta, R.M.1
Ricci, E.2
Galluzzi, G.3
Tonali, P.4
Mora, M.5
Morandi, L.6
-
5
-
-
0034702027
-
Identification of mutations in the gene encoding lamins A/C in autosomal domi-nant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
-
Muchir A, Bonne G, Van Der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, et al. Identification of mutations in the gene encoding lamins A/C in autosomal domi-nant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000;9:1453-9.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
Van Der Kooi, A.J.3
van Meegen, M.4
Baas, F.5
Bolhuis, P.A.6
-
6
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopa-thy and conduction-system disease
-
Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopa-thy and conduction-system disease. N Engl J Med 1999;341:1715-24.
-
(1999)
N Engl J Med
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
Macrae, C.2
Sasaki, T.3
Wolff, M.R.4
Porcu, M.5
Frenneaux, M.6
-
7
-
-
0033951216
-
LMNA encoding lamin A/C is modulated in partial lipodystrophy
-
Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, et al. LMNA encoding lamin A/C is modulated in partial lipodystrophy. Nat Genet 2000;24:153-6.
-
(2000)
Nat Genet
, vol.24
, pp. 153-156
-
-
Shackleton, S.1
Lloyd, D.J.2
Jackson, S.N.3
Evans, R.4
Niermeijer, M.F.5
Singh, B.M.6
-
8
-
-
0036178210
-
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
-
De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Human Genet 2002;70:726-36.
-
(2002)
Am J Human Genet
, vol.70
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
Vallat, J.M.4
Tazir, M.5
Kassouri, N.6
-
9
-
-
10744229294
-
Lamin A truncation in Hutchinson-Gilford proge-ria
-
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, et al. Lamin A truncation in Hutchinson-Gilford proge-ria. Science 2003;300:2055.
-
Science
, vol.2003
, pp. 300
-
-
De Sandre-Giovannoli, A.1
Bernard, R.2
Cau, P.3
Navarro, C.4
Amiel, J.5
Boccaccio, I.6
-
10
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003;423:293-8.
-
(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
-
11
-
-
73249133180
-
Atypical progeroid syndrome due to heterozygous missense LMNA mutations
-
Garg A, Subramayam L, Agarwal AK, Simha V, Levine B, D'Apice MR, et al. Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab 2009;94:4971-83.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 4971-4983
-
-
Garg, A.1
Subramayam, L.2
Agarwal, A.K.3
Simha, V.4
Levine, B.5
D'Apice, M.R.6
-
12
-
-
12244293441
-
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
-
Novelli G, Muchir A, Sangiuolo F, Helbing-Leclerc A, D'Apice MR, Massart C, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 2002,71:426-31.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 426-431
-
-
Novelli, G.1
Muchir, A.2
Sangiuolo, F.3
Helbing-Leclerc, A.4
D'Apice, M.R.5
Massart, C.6
-
13
-
-
19544374472
-
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
-
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D. et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004;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
-
14
-
-
0032770324
-
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy
-
Ognibene A, Sabatelli P, Petrini S, Squarzoni S, Riccio M, Santi S, et al. Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. Muscle Nerve 1999;22:864-9.
-
(1999)
Muscle Nerve
, vol.22
, pp. 864-869
-
-
Ognibene, A.1
Sabatelli, P.2
Petrini, S.3
Squarzoni, S.4
Riccio, M.5
Santi, S.6
-
15
-
-
0036837219
-
Functional domains of the nucleus: Implications for Emery-Dreifuss muscular dystrophy
-
Maraldi NM, Lattanzi G, Sabatelli P, Ognibene A, Squarzoni S. Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2002;12:815-23.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 815-823
-
-
Maraldi, N.M.1
Lattanzi, G.2
Sabatelli, P.3
Ognibene, A.4
Squarzoni, S.5
-
16
-
-
0035012608
-
Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy
-
Sabatelli P, Lattanzi G, Ognibene A, Columbaro M, Capanni C, Merlini L, et al. Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. Muscle Nerve 2001;24:826-9.
-
(2001)
Muscle Nerve
, vol.24
, pp. 826-829
-
-
Sabatelli, P.1
Lattanzi, G.2
Ognibene, A.3
Columbaro, M.4
Capanni, C.5
Merlini, L.6
-
17
-
-
33748134758
-
Laminopathies: A chromatin affair
-
Maraldi NM, Lattanzi G, Capanni C, Columbaro M, Mattioli E, Sabatelli P, et al. Laminopathies: a chromatin affair. Adv Enzym Regul 2006;46:33-49.
-
(2006)
Adv Enzym Regul
, vol.46
, pp. 33-49
-
-
Maraldi, N.M.1
Lattanzi, G.2
Capanni, C.3
Columbaro, M.4
Mattioli, E.5
Sabatelli, P.6
-
18
-
-
0037702007
-
At the nucleus of the problem: Nuclear proteins and disease
-
Maraldi NM, Lattanzi G, Squarzoni S, Sabatelli P, Marmiroli S, Ognibene A, Manzoli FA. At the nucleus of the problem: nuclear proteins and disease. Advan Enzym Regul 2003;43:411-43.
-
(2003)
Advan Enzym Regul
, vol.43
, pp. 411-443
-
-
Maraldi, N.M.1
Lattanzi, G.2
Squarzoni, S.3
Sabatelli, P.4
Marmiroli, S.5
Ognibene, A.6
Manzoli, F.A.7
-
19
-
-
33744999431
-
Nuclear envelope proteins and chromatin arrangement: A pathogenic mechanism for laminopathies
-
Maraldi NM, Lattanzi G, Capanni C, Columbaro M, Merlini L, Mattioli E, et al. Nuclear envelope proteins and chromatin arrangement: a pathogenic mechanism for laminopathies. Eur J Histochem 2006; 50:1-8.
-
(2006)
Eur J Histochem
, vol.50
, pp. 1-8
-
-
Maraldi, N.M.1
Lattanzi, G.2
Capanni, C.3
Columbaro, M.4
Merlini, L.5
Mattioli, E.6
-
20
-
-
0242365630
-
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: Altered intermolecular interac-tion with emerin and implications for gene transcription
-
Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, Columbaro M, et al. Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interac-tion with emerin and implications for gene transcription. Exp Cell Res 2003;291:122-34.
-
(2003)
Exp Cell Res
, vol.291
, pp. 122-134
-
-
Capanni, C.1
Cenni, V.2
Mattioli, E.3
Sabatelli, P.4
Ognibene, A.5
Columbaro, M.6
-
21
-
-
34548713556
-
Human lipodystro-phies linked to mutations in A-type and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence
-
Caron M, Auclair M, Donadille B, Bereziat V, Guerci B, Laville M, et al. Human lipodystro-phies linked to mutations in A-type and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence. Cell Death Differ 2007;14:1759-67.
-
(2007)
Cell Death Differ
, vol.14
, pp. 1759-1767
-
-
Caron, M.1
Auclair, M.2
Donadille, B.3
Bereziat, V.4
Guerci, B.5
Laville, M.6
-
22
-
-
20444449733
-
Altered prelamin A processing is a common mechanism leading to lipodystrophy
-
Capanni C, Mattioli E, Columbaro M, Lucarelli E, Parnaik VK, Novelli G, et al. Altered prelamin A processing is a common mechanism leading to lipodystrophy. Hum Mol Genet 2005;14:1489-502.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1489-1502
-
-
Capanni, C.1
Mattioli, E.2
Columbaro, M.3
Lucarelli, E.4
Parnaik, V.K.5
Novelli, G.6
-
23
-
-
28344445866
-
Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treat-ment
-
Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, Squarzoni S, et al. Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treat-ment. Cell Mol Life Sci 2005;62:2669-78.
-
(2005)
Cell Mol Life Sci
, vol.62
, pp. 2669-2678
-
-
Columbaro, M.1
Capanni, C.2
Mattioli, E.3
Novelli, G.4
Parnaik, V.K.5
Squarzoni, S.6
-
24
-
-
28344440157
-
Alterations of the nuclear envelope and chromatin organ-ization in mandibuloacral dysplasia, a rare form of laminopathy
-
Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, et al. Alterations of the nuclear envelope and chromatin organ-ization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics 2005;23:150-8.
-
(2005)
Physiol Genomics
, vol.23
, pp. 150-158
-
-
Filesi, I.1
Gullotta, F.2
Lattanzi, G.3
D'Apice, M.R.4
Capanni, C.5
Nardone, A.M.6
-
25
-
-
2942643923
-
Accumulation of mutant lamin A causes pro-gressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome
-
Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, et al. Accumulation of mutant lamin A causes pro-gressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 2004;101:8963-8.
-
(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
-
26
-
-
33745016642
-
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in prema-ture aging
-
Shumaker DK, Dechat T, Kohlmaier A, Adam SA, Bozovsky MR, Erdos MR, et al. Mutant nuclear lamin A leads to progressive alterations of epigenetic control in prema-ture aging. Proc Natl Acad Sci USA 2006;103:8703-8.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 8703-8708
-
-
Shumaker, D.K.1
Dechat, T.2
Kohlmaier, A.3
Adam, S.A.4
Bozovsky, M.R.5
Erdos, M.R.6
-
27
-
-
78650111089
-
Prelamin A processing and functional effects in restrictive dermopathy
-
Columbaro M, Mattioli E, Schena E, Capanni C, Cenni V, Levy N, et al. Prelamin A processing and functional effects in restrictive dermopathy. Cell Cycle 2010; 9:4766-8.
-
(2010)
Cell Cycle
, vol.9
, pp. 4766-47888
-
-
Columbaro, M.1
Mattioli, E.2
Schena, E.3
Capanni, C.4
Cenni, V.5
Levy, N.6
-
28
-
-
16344392142
-
Laminopathies: Involvement of structural nuclear proteins in the pathogenesis o fan increasing number of human diseases
-
Maraldi NM, Squarzoni S, Sabatelli P, Capanni C, Mattioli E, Ognibene A, et al., Laminopathies: involvement of structural nuclear proteins in the pathogenesis o fan increasing number of human diseases. J Cell Physiol 2005;203:319-27.
-
(2005)
J Cell Physiol
, vol.203
, pp. 319-327
-
-
Maraldi, N.M.1
Squarzoni, S.2
Sabatelli, P.3
Capanni, C.4
Mattioli, E.5
Ognibene, A.6
-
29
-
-
35148827802
-
The nuclear enve-lope, human genetic diseases and ageing
-
Maraldi NM, Mazzotti G, Rana R, Antonucci A, Di Primio R, Guidotti L. The nuclear enve-lope, human genetic diseases and ageing. Eur J Histochem 2007;51(Suppl.1):117-24.
-
(2007)
Eur J Histochem
, vol.51
, Issue.SUPPL. 1
, pp. 117-124
-
-
Maraldi, N.M.1
Mazzotti, G.2
Rana, R.3
Antonucci, A.4
Di Primio, R.5
Guidotti, L.6
-
30
-
-
1542317663
-
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
-
Lammerding J, Schulze PC, Takahashi T, Kozlov S, Sullivan T, Kamm RD, et al. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 2004;113:370-8.
-
(2004)
J Clin Invest
, vol.113
, pp. 370-378
-
-
Lammerding, J.1
Schulze, P.C.2
Takahashi, T.3
Kozlov, S.4
Sullivan, T.5
Kamm, R.D.6
-
31
-
-
34547174713
-
Distinct functional domains in nesprin-1 alpha and nesprin-2 beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy
-
Wheeler MA, Davies JD, Zhang Q, Emerson LJ, Hunt J, Shanahan CM, et al. Distinct functional domains in nesprin-1 alpha and nesprin-2 beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. Exp Cell Res 2007;313:2845-57.
-
(2007)
Exp Cell Res
, vol.313
, pp. 2845-2857
-
-
Wheeler, M.A.1
Davies, J.D.2
Zhang, Q.3
Emerson, L.J.4
Hunt, J.5
Shanahan, C.M.6
-
32
-
-
79960238889
-
Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear posi-tioning in human muscle
-
Mattioli E, Columbaro M, Capanni C, Maraldi NM, Cenni V, Scotlandi K, et al. Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear posi-tioning in human muscle. Cell Death Differ 2011;18:1305-15.
-
(2011)
Cell Death Differ
, vol.18
, pp. 1305-1315
-
-
Mattioli, E.1
Columbaro, M.2
Capanni, C.3
Maraldi, N.M.4
Cenni, V.5
Scotlandi, K.6
-
33
-
-
66849126054
-
Lamin complexes in the nuclear interior control progenitor cell proliferation and tissue homeostasis
-
Naetar N, Foisner R. Lamin complexes in the nuclear interior control progenitor cell proliferation and tissue homeostasis. Cell Cycle 2009;8:1488-93.
-
(2009)
Cell Cycle
, vol.8
, pp. 1488-1493
-
-
Naetar, N.1
Foisner, R.2
-
34
-
-
59349105194
-
The nuclear lamina promotes telomere aggregation and centromere peripheral localization during senescence of human mesenchymal stem cells
-
Raz V, Vermolen BJ, Garini Y, Omderwater JJ, Mommaas-Kienhuis MA, Koster AJ, et al. The nuclear lamina promotes telomere aggregation and centromere peripheral localization during senescence of human mesenchymal stem cells. J Cell Sci 2008; 121:4018-28.
-
(2008)
J Cell Sci
, vol.121
, pp. 4018-4028
-
-
Raz, V.1
Vermolen, B.J.2
Garini, Y.3
Omderwater, J.J.4
Mommaas-Kienhuis, M.A.5
Koster, A.J.6
-
35
-
-
34848872591
-
The inner nuclear envelope as a transcription factor resting place
-
Heessen S, Fornerod M. The inner nuclear envelope as a transcription factor resting place. EMBO Rep 2007;8:914-9.
-
(2007)
EMBO Rep
, vol.8
, pp. 914-919
-
-
Heessen, S.1
Fornerod, M.2
-
36
-
-
79952555799
-
Laminopathies and lamin-asso-ciated signaling pathways
-
Maraldi NM, Capanni C, Cenni V, Fini M, Lattanzi G. Laminopathies and lamin-asso-ciated signaling pathways. J Cell Biochem 2011;112:979-82.
-
(2011)
J Cell Biochem
, vol.112
, pp. 979-982
-
-
Maraldi, N.M.1
Capanni, C.2
Cenni, V.3
Fini, M.4
Lattanzi, G.5
-
37
-
-
41649097238
-
Nuclear lamins: Major factors in the structural organization and function of the nucleus and chromatin
-
Dechat T, Pfleghaar K, Sengupta K, Shimi T, Shumaker DK, Solimando, L et al. Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin. Genes Dev 2008;22:832-53.
-
(2008)
Genes Dev
, vol.22
, pp. 832-853
-
-
Dechat, T.1
Pfleghaar, K.2
Sengupta, K.3
Shimi, T.4
Shumaker, D.K.5
Solimando, L.6
-
38
-
-
47949122432
-
Adult stem cell maintenance and tissue regeneration in the ageing context: The role for A-type lamins as intrinsic modulators of ageing in adult stem cells and their niches
-
Pekovic V, Hutchison CJ. Adult stem cell maintenance and tissue regeneration in the ageing context: the role for A-type lamins as intrinsic modulators of ageing in adult stem cells and their niches. J Anat 2008;213:5-25.
-
(2008)
J Anat
, vol.213
, pp. 5-25
-
-
Pekovic, V.1
Hutchison, C.J.2
-
39
-
-
0344309291
-
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous muta-tion in lamin A/C gene
-
Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, et al. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous muta-tion in lamin A/C gene. Exp Cell Res 2004;291:352-62.
-
(2004)
Exp Cell Res
, vol.291
, pp. 352-362
-
-
Muchir, A.1
van Engelen, B.G.2
Lammens, M.3
Mislow, J.M.4
McNally, E.5
Schwartz, K.6
-
40
-
-
24144481867
-
Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells
-
Lammerding J, Hsiao J, Schulze PC, Kozlov S, Stewart CL, Lee RT. Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J Cell Biol 2006; 170:781-91.
-
(2006)
J Cell Biol
, vol.170
, pp. 781-791
-
-
Lammerding, J.1
Hsiao, J.2
Schulze, P.C.3
Kozlov, S.4
Stewart, C.L.5
Lee, R.T.6
-
42
-
-
20144368040
-
Lamin A N-terminal phosphorylation is associated with myoblast activation: Impairment in Emery-Dreifuss muscular dystrophy
-
Cenni V, Sabatelli P, Mattioli E, Marmiroli S, Capanni C, Ognibene A, et al. Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. J Med Genet 2005;42:214-20.
-
(2005)
J Med Genet
, vol.42
, pp. 214-220
-
-
Cenni, V.1
Sabatelli, P.2
Mattioli, E.3
Marmiroli, S.4
Capanni, C.5
Ognibene, A.6
-
43
-
-
58149389535
-
Lamin A Ser404 is a nuclear target of Akt phosphorylation in C2C12 cells
-
Cenni V, Bertacchini J, Beretti F, Lattanzi G, Bavelloni A, Riccio M, et al. Lamin A Ser404 is a nuclear target of Akt phosphorylation in C2C12 cells. J Proteome Res 2008;7:4727-35.
-
(2008)
J Proteome Res
, vol.7
, pp. 4727-4735
-
-
Cenni, V.1
Bertacchini, J.2
Beretti, F.3
Lattanzi, G.4
Bavelloni, A.5
Riccio, M.6
-
44
-
-
70349245041
-
Nuclei of aged myofibres undergo structural and functional changes suggesting impairment in RNA processing
-
Malatesta M, Perdoni F, Muller S, Zancanaro C, Pellicciari C. Nuclei of aged myofibres undergo structural and functional changes suggesting impairment in RNA processing. Eur J Histochem 2009;53:e12.
-
(2009)
Eur J Histochem
, vol.53
-
-
Malatesta, M.1
Perdoni, F.2
Muller, S.3
Zancanaro, C.4
Pellicciari, C.5
-
45
-
-
84857706630
-
Cultured myoblasts from patients affected by myoton-ic dystrophy type 2 exhibit senescence-relat-ed features: Ultrastructural evidence
-
Malatesta M, Giagnacovo M, Renna LV, Cardani R, Meola G, Pellicciari C. Cultured myoblasts from patients affected by myoton-ic dystrophy type 2 exhibit senescence-relat-ed features: ultrastructural evidence. Eur J Histochem 2011:55:e26.
-
(2011)
Eur J Histochem
, vol.55
-
-
Malatesta, M.1
Giagnacovo, M.2
Renna, L.V.3
Cardani, R.4
Meola, G.5
Pellicciari, C.6
-
46
-
-
78249287818
-
Structural and func-tional alterations of the cell nucleus in skeletal muscle wasting: The evidence in situ
-
Malatesta M, Meola G. Structural and func-tional alterations of the cell nucleus in skeletal muscle wasting: the evidence in situ. Eur J Histochem 2010:54:e44.
-
(2010)
Eur J Histochem
, vol.54
-
-
Malatesta, M.1
Meola, G.2
-
47
-
-
33645451179
-
Linkage of lamins to fidelity of gene transcription
-
Maraldi NM, Lattanzi G. Linkage of lamins to fidelity of gene transcription. Crit Rev Eukaryot Gene Exp 2005;15:277-293.
-
(2005)
Crit Rev Eukaryot Gene Exp
, vol.15
, pp. 277-293
-
-
Maraldi, N.M.1
Lattanzi, G.2
-
48
-
-
77955385716
-
Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence
-
Benson EK, Lee SW, Aaronson SW. Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence. J Cell Sci 2010;123:2605-12.
-
(2010)
J Cell Sci
, vol.123
, pp. 2605-2612
-
-
Benson, E.K.1
Lee, S.W.2
Aaronson, S.W.3
-
49
-
-
79954550105
-
Muscular laminopathies: Role of prelamin A in early steps of muscle differentiation
-
Maraldi NM, Capanni C, Del Coco R, Squarzoni S, Columbaro M, Mattioli E, et al. Muscular laminopathies: role of prelamin A in early steps of muscle differentiation. Advan Enzym Regul 2011;51:246-56.
-
(2011)
Advan Enzym Regul
, vol.51
, pp. 246-256
-
-
Maraldi, N.M.1
Capanni, C.2
Del Coco, R.3
Squarzoni, S.4
Columbaro, M.5
Mattioli, E.6
-
50
-
-
14044265165
-
Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal mus-cle differentiation in vitro
-
Markiewicz E, Ledran M, Hutchinson CJ. Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal mus-cle differentiation in vitro. J Cell Sci 2005;118:409-20.
-
(2005)
J Cell Sci
, vol.118
, pp. 409-420
-
-
Markiewicz, E.1
Ledran, M.2
Hutchinson, C.J.3
-
51
-
-
19944426537
-
Mouse model carryng H222P Lmna mutation devel-ops muscular dystrophy and dilated car-diomyopathy similar to human striated muscle laminopathies
-
Arimura T, Helbling-Leclerc A, Massart C, Varnou S, Niel F, Lacene E, et al. Mouse model carryng H222P Lmna mutation devel-ops muscular dystrophy and dilated car-diomyopathy similar to human striated muscle laminopathies. Hum Mol Genet 2005;14:155-69.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 155-169
-
-
Arimura, T.1
Helbling-Leclerc, A.2
Massart, C.3
Varnou, S.4
Niel, F.5
Lacene, E.6
-
52
-
-
0033963704
-
Oxidative stress and gene regulation
-
Allen RG, Tresini M. Oxidative stress and gene regulation. Free Rad Bio Med 2000; 28:463-9.
-
(2000)
Free Rad Bio Med
, vol.28
, pp. 463-469
-
-
Allen, R.G.1
Tresini, M.2
-
53
-
-
33144490305
-
Nuclear and mitochondrial compartmentation of oxida-tive stress and redox signaling
-
Hansen JM, Go YM, Jones DP. Nuclear and mitochondrial compartmentation of oxida-tive stress and redox signaling. Annu Rev Pharmacol Toxicol 2006;46:215-34.
-
(2006)
Annu Rev Pharmacol Toxicol
, vol.46
, pp. 215-234
-
-
Hansen, J.M.1
Go, Y.M.2
Jones, D.P.3
-
55
-
-
81155124411
-
Conserved cysteine residues in the mam-malian lamin A tail are essential for cellular responses to ROS generation
-
Pekovic V, Gibbs-Seymour I, Markiewicz E, Alzoghaibi F, Benham AM, Edwards R, et al. Conserved cysteine residues in the mam-malian lamin A tail are essential for cellular responses to ROS generation. Aging Cell 2011;10:10-79.
-
(2011)
Aging Cell
, vol.10
, pp. 1067-1079
-
-
Pekovic, V.1
Gibbs-Seymour, I.2
Markiewicz, E.3
Alzoghaibi, F.4
Benham, A.M.5
Edwards, R.6
-
56
-
-
74149087114
-
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson-Gilford progeria patients
-
Viteri G, Chung YW, Stadman ER. Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson-Gilford progeria patients. Mech Ageing Dev 2010;131:2-8.
-
(2010)
Mech Ageing Dev
, vol.131
, pp. 2-8
-
-
Viteri, G.1
Chung, Y.W.2
Stadman, E.R.3
-
57
-
-
80053966315
-
Epetitive disrup-tions of the nuclear envelope invoke tempo-rary loss of cellular compartmentalization in laminopathies
-
De Vos WH, Houben F, Kamps M, Malhas A, Verheyen F, Cox J, et al. Repetitive disrup-tions of the nuclear envelope invoke tempo-rary loss of cellular compartmentalization in laminopathies. Hum Mol Genet 2011;20: 4175-86.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 4175-4186
-
-
De Vos, W.H.1
Houben, F.2
Kamps, M.3
Malhas, A.4
Verheyen, F.5
Cox, J.6
-
58
-
-
81855220956
-
The role of DNA damage in laminopathy progeroid syndromes
-
Hutchison CJ. The role of DNA damage in laminopathy progeroid syndromes. Biochem Soc Trans 2011;39:1715-8.
-
(2011)
Biochem Soc Trans
, vol.39
, pp. 1715-1718
-
-
Hutchison, C.J.1
-
59
-
-
35448962513
-
A continuous cor-relation between oxidative stress and telom-ere shortening in fibroblasts
-
Richter T, von Zglinicki T. A continuous cor-relation between oxidative stress and telom-ere shortening in fibroblasts. Exp Geront 2007;42:1039-42.
-
(2007)
Exp Geront
, vol.42
, pp. 1039-1042
-
-
Richter, T.1
von Zglinicki, T.2
-
60
-
-
69249222566
-
Novel roles for A-type lamins in telomere biology and the DNA damage response pathway
-
Gonzales-Suarez I, Redwood AB, Perkins SM, Vermolen B, Lichtensztejin D, Grotsky DA, et al. Novel roles for A-type lamins in telomere biology and the DNA damage response pathway. EMBO J 2009;28:2414-27.
-
(2009)
EMBO J
, vol.28
, pp. 2414-2427
-
-
Gonzales-Suarez, I.1
Redwood, A.B.2
Perkins, S.M.3
Vermolen, B.4
Lichtensztejin, D.5
Grotsky, D.A.6
-
61
-
-
22544466685
-
Genomic instability inlaminopathy-based premature aging
-
Liu BH, Wang JM, Chan KM, Tjia WM, Deng W, Guan XY, et al. Genomic instability inlaminopathy-based premature aging. Nat Med 2005;11:780-785.
-
(2005)
Nat Med
, vol.11
, pp. 780-785
-
-
Liu, B.H.1
Wang, J.M.2
Chan, K.M.3
Tjia, W.M.4
Deng, W.5
Guan, X.Y.6
-
62
-
-
38949190562
-
Involvement of Xeroderma Pigmentosum Group a (XPA) In Progeria Arising From Defective Maturation of Prelamin A: FASEB
-
Liu YY, Wang Y, Rusinol, Sinensky MS, Liu J, Shell SM, Zou Y. Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A: FASEB J 2008;22:603-11.
-
(2008)
J
, vol.22
, pp. 603-611
-
-
Liu, Y.Y.1
Wang, Y.2
Rusinol3
Sinensky, M.S.4
Liu, J.5
Shell, S.M.6
Zou, Y.7
-
63
-
-
47749106839
-
The R527H mutation in LMNA gene causes an increase sensitivity to ioniz-ing radiation
-
di Masi A, D'Apice MR, Ricordy R, Tanzarella C, Novelli G. The R527H mutation in LMNA gene causes an increase sensitivity to ioniz-ing radiation. Cell Cycle 2008;7:2030-7.
-
(2008)
Cell Cycle
, vol.7
, pp. 2030-2037
-
-
di Masi, A.1
D'Apice, M.R.2
Ricordy, R.3
Tanzarella, C.4
Novelli, G.5
-
64
-
-
33746883839
-
Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci
-
Manjuou K, Muralikrishna B, Parnaik VK. Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. J Cell Sci 2006;119:2704-14.
-
(2006)
J Cell Sci
, vol.119
, pp. 2704-2714
-
-
Manjuou, K.1
Muralikrishna, B.2
Parnaik, V.K.3
-
65
-
-
33845699084
-
DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A
-
Liu YY, Rusinol A, Sinensky M, Wang YJ, Zou Y. DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A. J Cell Sci 2006;119:4644-9.
-
(2006)
J Cell Sci
, vol.119
, pp. 4644-4649
-
-
Liu, Y.Y.1
Rusinol, A.2
Sinensky, M.3
Wang, Y.J.4
Zou, Y.5
-
67
-
-
80053150156
-
The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS gener-ation and is prevented by treatment with N-acetyl cysteine
-
Richards SA, Muter J, Ritchie P, Lattanzi G, Hitchison CJ. The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS gener-ation and is prevented by treatment with N-acetyl cysteine. Hum Mol Genet 2011; 20:3997-4004.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3997-4004
-
-
Richards, S.A.1
Muter, J.2
Ritchie, P.3
Lattanzi, G.4
Hitchison, C.J.5
-
68
-
-
78650744699
-
Nuclear shield: A multi-enzyme task-force for nuclear pro-tection
-
Fabrini R, Bocedi A, Pallottini V, Canuti L, De Canio M, Urbani A, et al. Nuclear shield: a multi-enzyme task-force for nuclear pro-tection. PLoS ONE 2010;5:1-11.
-
(2010)
PLoS ONE
, vol.5
, pp. 1-11
-
-
Fabrini, R.1
Bocedi, A.2
Pallottini, V.3
Canuti, L.4
De Canio, M.5
Urbani, A.6
-
69
-
-
0036838245
-
Genesis of muscular dystrophies
-
genesis of muscular dystrophies. Am J Phys Med Rehabil 2002;81:S175-S186.
-
(2002)
Am J Phys Med Rehabil
, vol.21
-
-
-
70
-
-
34147152905
-
The role of free radicals in the pathophysiology of mus-cular dystrophy
-
Tidball JG, Wehling-Hendicks M. The role of free radicals in the pathophysiology of mus-cular dystrophy. J Appl Physiol 2007;102: 1677-86.
-
(2007)
J Appl Physiol
, vol.102
, pp. 1677-1686
-
-
Tidball, J.G.1
Wehling-Hendicks, M.2
-
71
-
-
65549087972
-
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice
-
Palma E, Tiepolo T, Angelin A, Sabatelli P, Maraldi NM, Basso E, et al. Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. Hum Mol Genet 2009;18:2024-31.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2024-2031
-
-
Palma, E.1
Tiepolo, T.2
Angelin, A.3
Sabatelli, P.4
Maraldi, N.M.5
Basso, E.6
-
72
-
-
65549104874
-
The cyclophilin inhibitor Debio 025 normalizes mitochondr-ial function, muscle apoptosis and ultra-structural defects in Col6a1(-/-) myopathic mice
-
Tiepolo T, Angelin A, Palma E, Sabatelli P, Merlin L, Nicolosi L, et al. The cyclophilin inhibitor Debio 025 normalizes mitochondr-ial function, muscle apoptosis and ultra-structural defects in Col6a1(-/-) myopathic mice. Br J Pharmacol 2009;157:1045-52.
-
(2009)
Br J Pharmacol
, vol.157
, pp. 1045-1052
-
-
Tiepolo, T.1
Angelin, A.2
Palma, E.3
Sabatelli, P.4
Merlin, L.5
Nicolosi, L.6
-
73
-
-
42449109035
-
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
-
Merlini L, Angelin A, Tiepolo T, Braghetta P, Sabatelli P, Zamparelli A, et al. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci USA 2008;105:5225-9.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 5225-5229
-
-
Merlini, L.1
Angelin, A.2
Tiepolo, T.3
Braghetta, P.4
Sabatelli, P.5
Zamparelli, A.6
-
74
-
-
84861881756
-
Proteomic profiling of adipose tis-sue from Zmpste24(-/-) mice, a model of lipodystrophy and premature aging, reveals major changes in mitochondrial function and vimentin processing
-
Peinado JR, Quiros PM, Pilido MR, Marino G, Martinez-Chantar ML, Vasquez-Martinez R, et al.,Proteomic profiling of adipose tis-sue from Zmpste24(-/-) mice, a model of lipodystrophy and premature aging, reveals major changes in mitochondrial function and vimentin processing. Mol Cell Proteomics 2011;10:1-16.
-
(2011)
Mol Cell Proteomics
, vol.10
, pp. 1-16
-
-
Peinado, J.R.1
Quiros, P.M.2
Pilido, M.R.3
Marino, G.4
Martinez-Chantar, M.L.5
Vasquez-Martinez, R.6
-
75
-
-
77951518839
-
Vegf-Induced R.O.S.generation from NAD(P)H oxidases protects human leukemic cells from apoptosis
-
Maraldi T, Prata C, Caliceti C, Vieceli Dalla Sega F, Zambonin L, Fiorentini D, Hakim G. VEGF-induced ROS generation from NAD(P)H oxidases protects human leukemic cells from apoptosis. Int J Oncology 2010;36:1581-9.
-
(2010)
Int J Oncology
, vol.36
, pp. 1581-1589
-
-
Maraldi, T.1
Prata, C.2
Caliceti, C.3
Dalla Sega, V.F.4
Zambonin, L.5
Fiorentini, D.6
Hakim, G.7
-
76
-
-
79351469341
-
Low levels of selenium compounds are selectively toxic for a human neuron cell line through ROS/RNS increase and apoptotic process activation
-
Maraldi T, Riccio M, Zambonin L, Vinceti M, De Pol A, Hakim G. Low levels of selenium compounds are selectively toxic for a human neuron cell line through ROS/RNS increase and apoptotic process activation. Neurotoxicology 2011;32:180-7.
-
(2011)
Neurotoxicology
, vol.32
, pp. 180-187
-
-
Maraldi, T.1
Riccio, M.2
Zambonin, L.3
Vinceti, M.4
de Pol, A.5
Hakim, G.6
-
77
-
-
33644874936
-
Oxidative stress by monoamine oxidase mediates receptor-independent cardiomyocyte apop-tosis by serotonin and post-ischemic myocardial injury
-
Bianchi P, Kunduzova O, Masini E, Cambon C, Bani D, Raimondi L, etal. Oxidative stress by monoamine oxidase mediates receptor-independent cardiomyocyte apop-tosis by serotonin and post-ischemic myocardial injury. Circulation 2005;112: 3297-305.
-
(2005)
Circulation
, vol.112
, pp. 3297-3305
-
-
Bianchi, P.1
Kunduzova, O.2
Masini, E.3
Cambon, C.4
Bani, D.5
Raimondi, L.6
-
78
-
-
77957870248
-
Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy
-
Menazza S, Blaauw B, Tiepolo T, Toniolo L, Braghetta P, Spolaore B, etal. Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy. Hum Mol Genet 2010;19:4207-15.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4207-4215
-
-
Menazza, S.1
Blaauw, B.2
Tiepolo, T.3
Toniolo, L.4
Braghetta, P.5
Spolaore, B.6
-
79
-
-
27544498316
-
Incomplete process-ing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition
-
Glynn MW, Glover TW. Incomplete process-ing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. Hum Mol Genet 2005;14:2959-69.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2959-2969
-
-
Glynn, M.W.1
Glover, T.W.2
-
80
-
-
43149124203
-
Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing
-
Scaffidi P, Misteli T. Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing. Nat Cell Biol 2008;10:452-9.
-
(2008)
Nat Cell Biol
, vol.10
, pp. 452-459
-
-
Scaffidi, P.1
Misteli, T.2
-
81
-
-
42049117585
-
Nuclear envelope defects cause stem cell dysfunc-tion in premature-aging mice
-
Espada J, Varela I, Flores I, Ugalde AP, Cadinanos J, Pendas AM, et al. Nuclear envelope defects cause stem cell dysfunc-tion in premature-aging mice. J Cell Biol 2008;181:27-35.
-
(2008)
J Cell Biol
, vol.181
, pp. 27-35
-
-
Espada, J.1
Varela, I.2
Flores, I.3
Ugalde, A.P.4
Cadinanos, J.5
Pendas, A.M.6
-
82
-
-
46849106102
-
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging
-
Varela I, Pereira S, Ugalde AP, Navarro CL, Suarez MF, Cau P et al. Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nat Med 2008; 14:767.72.
-
(2008)
Nat Med
, vol.14
, Issue.767
, pp. 72
-
-
Varela, I.1
Pereira, S.2
Ugalde, A.P.3
Navarro, C.L.4
Suarez, M.F.5
Cau, P.6
-
83
-
-
34547851806
-
Activation of MAPK in hearts of Emd null mice: Similarities between mouse models of X-linked and autosomal dominant Emery-Dreifuss muscular dystrophy
-
Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ. Activation of MAPK in hearts of Emd null mice: similarities between mouse models of X-linked and autosomal dominant Emery-Dreifuss muscular dystrophy. Hum Mol Genet 2007;16:1884-95.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1884-1895
-
-
Muchir, A.1
Pavlidis, P.2
Bonne, G.3
Hayashi, Y.K.4
Worman, H.J.5
-
84
-
-
58049209788
-
Inhibition of extracellular sig-nal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins
-
Muchir A, Shan J, Bonne G, Lehnart SE, Worman HJ. Inhibition of extracellular sig-nal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins. Hum Mol Genet 2009;18:241-7.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 241-247
-
-
Muchir, A.1
Shan, J.2
Bonne, G.3
Lehnart, S.E.4
Worman, H.J.5
-
85
-
-
80054746923
-
Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked proge-ria
-
Cenni V, Capanni C, Columbaro M, Ortolani M, D'Apice MR, Novelli G, et al. Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked proge-ria. Eur J Histochem 2011;55:e36.
-
(2011)
Eur J Histochem
, vol.55
-
-
Cenni, V.1
Capanni, C.2
Columbaro, M.3
Ortolani, M.4
D'Apice, M.R.5
Novelli, G.6
|