-
1
-
-
0025272250
-
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
-
DOI 10.1038/345315a0
-
Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. 1990. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345:315-319 (Pubitemid 20159538)
-
(1990)
Nature
, vol.345
, Issue.6273
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
Gaver, M.G.4
Campbell, K.P.5
-
2
-
-
0025242185
-
Glycoprotein complex anchoring dystrophin to sarcolemma
-
Yoshida M, Ozawa E. 1990. Glycoprotein complex anchoring dystrophin to sarcolemma. J. Biochem. 108:748-752
-
(1990)
J. Biochem.
, vol.108
, pp. 748-752
-
-
Yoshida, M.1
Ozawa, E.2
-
3
-
-
0034605070
-
The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin
-
Rybakova IN, Patel JR, Ervasti JM. 2000. The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin. J. Cell Biol. 150:1209-1214
-
(2000)
J. Cell Biol.
, vol.150
, pp. 1209-1214
-
-
Rybakova, I.N.1
Patel, J.R.2
Ervasti, J.M.3
-
4
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. 1992. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355:696-702
-
(1992)
Nature
, vol.355
, pp. 696-702
-
-
Ibraghimov-Beskrovnaya, O.1
Ervasti, J.M.2
Leveille, C.J.3
Slaughter, C.A.4
Sernett, S.W.5
Kp, C.6
-
5
-
-
13344277364
-
Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and α1-syntrophin mediated by PDZ domains
-
Brenman JE, Chao DS, Gee SH, McGee AW, Craven SE, et al. 1996. Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and α1-syntrophin mediated by PDZ domains. Cell 84:757-767
-
(1996)
Cell
, vol.84
, pp. 757-767
-
-
Brenman, J.E.1
Chao, D.S.2
Gee, S.H.3
McGee, A.W.4
Craven, S.E.5
-
7
-
-
0036699086
-
Genetic diseases of muscle
-
Wagner KR. 2002. Genetic diseases of muscle. Neurol. Clin. 20:645-678
-
(2002)
Neurol. Clin.
, vol.20
, pp. 645-678
-
-
Wagner, K.R.1
-
8
-
-
33749009911
-
Biglycan binds to α- And γ-sarcoglycan and regulates their expression during development
-
DOI 10.1002/jcp.20740
-
Rafii MS, Hagiwara H, Mercado ML, Seo NS, Xu T, et al. 2006. Biglycan binds to α- and γ-sarcoglycan and regulates their expression during development. J. Cell Physiol. 209:439-447 (Pubitemid 44484635)
-
(2006)
Journal of Cellular Physiology
, vol.209
, Issue.2
, pp. 439-447
-
-
Rafii, M.S.1
Hagiwara, H.2
Mercado, M.L.3
Seo, N.S.4
Xu, T.5
Dugan, T.6
Owens, R.T.7
Hook, M.8
McQuillan, D.J.9
Young, M.F.10
Fallon, J.R.11
-
9
-
-
33845666156
-
Biglycan regulates the expression and sarcolemmal localization of dystrobrevin, syntrophin, and nNOS
-
DOI 10.1096/fj.05-5124fje
-
Mercado ML, Amenta AR, Hagiwara H, Rafii MS, Lechner BE, et al. 2006. Biglycan regulates the expression and sarcolemmal localization of dystrobrevin, syntrophin, and nNOS. FASEB J. 20:1724-1726 (Pubitemid 44943785)
-
(2006)
FASEB Journal
, vol.20
, Issue.10
-
-
Mercado, M.L.1
Amenta, A.R.2
Hagiwara, H.3
Rafii, M.S.4
Lechner, B.E.5
Owens, R.T.6
McQuillan, D.J.7
Froehner, S.C.8
Fallon, J.R.9
-
10
-
-
33644868707
-
Impact of sarcoglycan complex on mechanical signal transduction in murine skeletal muscle
-
Barton ER. 2006. Impact of sarcoglycan complex on mechanical signal transduction in murine skeletal muscle. Am. J. Physiol. Cell Physiol. 290:C411-19
-
(2006)
Am. J. Physiol. Cell Physiol.
, vol.290
-
-
Barton, E.R.1
-
11
-
-
0028980027
-
Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
-
Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, et al. 1995. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat. Genet. 11:216-218
-
(1995)
Nat. Genet.
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
Cruaud, C.4
Tesson, F.5
-
12
-
-
0037173670
-
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
-
DOI 10.1038/nature00837
-
Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, et al. 2002. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418:417-422 (Pubitemid 34826841)
-
(2002)
Nature
, vol.418
, Issue.6896
, pp. 417-422
-
-
Michele, D.E.1
Barresi, R.2
Kanagawa, M.3
Salto, F.4
Cohn, R.D.5
Satz, J.S.6
Dollar, J.7
Nishino, I.8
Kelley, R.I.9
Somer, H.10
Straub, V.11
Mathews, K.D.12
Moore, S.A.13
Campbell, K.P.14
-
13
-
-
34250854638
-
Congenital muscular dystrophies Involving the O-mannose pathway
-
DOI 10.2174/156652407780831601
-
Martin PT. 2007. Congenital muscular dystrophies involving the O-mannose pathway. Curr. Mol. Med. 7:417-425 (Pubitemid 46979705)
-
(2007)
Current Molecular Medicine
, vol.7
, Issue.4
, pp. 417-425
-
-
Martin, P.T.1
-
14
-
-
18244375299
-
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C
-
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, et al. 2001. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum. Mol. Genet. 10:2851-2859 (Pubitemid 34030916)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.25
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
Herrmann, R.7
Anderson, L.V.B.8
Bashir, R.9
Burgunder, J.-M.10
Fallet, S.11
Romero, N.12
Fardeau, M.13
Straub, V.14
Storey, G.15
Pollitt, C.16
Richard, I.17
Sewry, C.A.18
Bushby, K.19
Voit, T.20
Blake, D.J.21
Muntoni, F.22
more..
-
15
-
-
17344372250
-
Mutations in the integrin α7 gene cause congenital myopathy
-
DOI 10.1038/ng0598-94
-
Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, et al. 1998. Mutations in the integrin α7 gene cause congenital myopathy. Nat. Genet. 19:94-97 (Pubitemid 28242033)
-
(1998)
Nature Genetics
, vol.19
, Issue.1
, pp. 94-97
-
-
Hayashi, Y.K.1
Chou, F.-L.2
Engvall, E.3
Ogawa, M.4
Matsuda, C.5
Hirabayashi, S.6
Yokochi, K.7
Ziober, B.L.8
Kramer, R.H.9
Kaufman, S.J.10
Ozawa, E.11
Goto, Y.-I.12
Nonaka, I.13
Tsukahara, T.14
Wang, J.-Z.15
Hoffman, E.P.16
Arahata, K.17
-
16
-
-
0030809116
-
Altered expression of the α7β1 integrin in human and murine muscular dystrophies
-
Hodges BL, Hayashi YK, Nonaka I, Wang W, Arahata K, Kaufman SJ. 1997. Altered expression of the α7β1 integrin in human and murine muscular dystrophies. J. Cell Sci. 110(Pt. 22):2873-2881 (Pubitemid 27514116)
-
(1997)
Journal of Cell Science
, vol.110
, Issue.22
, pp. 2873-2881
-
-
Hodges, B.L.1
Hayashi, Y.K.2
Nonaka, I.3
Wang, W.4
Arahata, K.5
Kaufman, S.J.6
-
17
-
-
4444306357
-
Genetic compensation for sarcoglycan loss by integrin α7β1 in muscle
-
DOI 10.1242/jcs.01234
-
Allikian MJ, Hack AA, Mewborn S, Mayer U, McNally EM. 2004. Genetic compensation for sarcoglycan loss by integrin α7β1 in muscle. J. Cell Sci. 117:3821-3830 (Pubitemid 39207320)
-
(2004)
Journal of Cell Science
, vol.117
, Issue.17
, pp. 3821-3830
-
-
Allikian, M.J.1
Hack, A.A.2
Mewborn, S.3
Mayer, U.4
McNally, E.M.5
-
18
-
-
0034627825
-
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
-
DOI 10.1083/jcb.148.1.115
-
Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, et al. 2000. Filamin 2 (FLN2): a musclespecific sarcoglycan interacting protein. J. Cell Biol. 148:115-126 (Pubitemid 30046786)
-
(2000)
Journal of Cell Biology
, vol.148
, Issue.1
, pp. 115-126
-
-
Thompson, T.G.1
Chan, Y.-M.2
Hack, A.A.3
Brosius, M.4
Rajala, M.5
Lidov, H.G.W.6
McNally, E.M.7
Watkins, S.8
Kunkel, L.M.9
-
19
-
-
33644778843
-
Absence of α7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy
-
DOI 10.1093/hmg/ddl018
-
Guo C, Willem M, Werner A, Raivich G, Emerson M, et al. 2006. Absence of α7 integrin in dystrophindeficient mice causes a myopathy similar to Duchenne muscular dystrophy. Hum. Mol. Genet. 15:989-998 (Pubitemid 43338239)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.6
, pp. 989-998
-
-
Guo, C.1
Willem, M.2
Werner, A.3
Raivich, G.4
Emerson, M.5
Neyses, L.6
Mayer, U.7
-
20
-
-
33745493594
-
Severe muscular dystrophy in mice that lack dystrophin and α7 integrin
-
Rooney JE, Welser JV, Dechert MA, Flintoff-Dye NL, Kaufman SJ, Burkin DJ. 2006. Severe muscular dystrophy in mice that lack dystrophin and α7 integrin. J. Cell Sci. 119:2185-2195
-
(2006)
J. Cell Sci.
, vol.119
, pp. 2185-2195
-
-
Rooney, J.E.1
Welser, J.V.2
Dechert, M.A.3
Flintoff-Dye, N.L.4
Kaufman, S.J.5
Burkin, D.J.6
-
21
-
-
0035911960
-
Enhanced expression of the α7β1 integrin reduces muscular dystrophy and restores viability in dystrophic mice
-
Burkin DJ, Wallace GQ, Nicol KJ, Kaufman DJ, Kaufman SJ. 2001. Enhanced expression of the α7β1 integrin reduces muscular dystrophy and restores viability in dystrophic mice. J. Cell Biol. 152:1207-1218
-
(2001)
J. Cell Biol.
, vol.152
, pp. 1207-1218
-
-
Burkin, D.J.1
Wallace, G.Q.2
Nicol, K.J.3
Kaufman, D.J.4
Kaufman, S.J.5
-
22
-
-
0016591825
-
Duchenne dystrophy: Electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber
-
Mokri B, Engel AG. 1975. Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber. Neurology 25:1111-1120
-
(1975)
Neurology
, vol.25
, pp. 1111-1120
-
-
Mokri, B.1
Engel, A.G.2
-
23
-
-
0033782272
-
Contrast agent-enhanced magnetic resonance imaging of skeletal muscle damage in animal models of muscular dystrophy
-
Straub V, Donahue KM, Allamand V, Davisson RL, Kim YR, Campbell KP. 2000. Contrast agentenhanced magnetic resonance imaging of skeletal muscle damage in animal models of muscular dystrophy. Magn. Reson. Med. 44:655-659 (Pubitemid 30769669)
-
(2000)
Magnetic Resonance in Medicine
, vol.44
, Issue.4
, pp. 655-659
-
-
Straub, V.1
Donahue, K.M.2
Allamand, V.3
Davisson, R.L.4
Kim, Y.R.5
Campbell, K.P.6
-
24
-
-
0020050391
-
Membrane myopathy: Morphological similarities to Duchenne muscular dystrophy
-
Pestronk A, Parhad IM, Drachman DB, Price DL. 1982. Membrane myopathy: morphological similarities to Duchenne muscular dystrophy. Muscle Nerve 5:209-214
-
(1982)
Muscle Nerve
, vol.5
, pp. 209-214
-
-
Pestronk, A.1
Parhad, I.M.2
Drachman, D.B.3
Price, D.L.4
-
25
-
-
0026032731
-
Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse
-
Menke A, Jockusch H. 1991. Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse. Nature 349:69-71 (Pubitemid 21912016)
-
(1991)
Nature
, vol.349
, Issue.6304
, pp. 69-71
-
-
Menke, A.1
Jockusch, H.2
-
26
-
-
0028929061
-
Mechanical function of dystrophin in muscle cells
-
Pasternak C, Wong S, Elson EL. 1995. Mechanical function of dystrophin in muscle cells. J. Cell Biol. 128:355-361
-
(1995)
J. Cell Biol.
, vol.128
, pp. 355-361
-
-
Pasternak, C.1
Wong, S.2
Elson, E.L.3
-
27
-
-
0033594082
-
Extensive but coordinated reorganization of the membrane skeleton in myofibers of dystrophic (mdx) mice
-
Williams MW, Bloch RJ. 1999. Extensive but coordinated reorganization of the membrane skeleton in myofibers of dystrophic (mdx) mice. J. Cell Biol. 144:1259-1270
-
(1999)
J. Cell Biol.
, vol.144
, pp. 1259-1270
-
-
Williams, M.W.1
Bloch, R.J.2
-
28
-
-
0026731937
-
Immunologic study of vinculin in Duchenne muscular dystrophy
-
Minetti C, Tanji K, Bonilla E. 1992. Immunologic study of vinculin in Duchenne muscular dystrophy. Neurology 42:1751-1754
-
(1992)
Neurology
, vol.42
, pp. 1751-1754
-
-
Minetti, C.1
Tanji, K.2
Bonilla, E.3
-
29
-
-
0027186053
-
Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity
-
DOI 10.1038/364725a0
-
Cox GA, Cole NM, Matsumura K, Phelps SF, Hauschka SD, et al. 1993. Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature 364:725-729 (Pubitemid 23273127)
-
(1993)
Nature
, vol.364
, Issue.6439
, pp. 725-729
-
-
Cox, G.A.1
Cole, N.M.2
Matsumura, K.3
Pheips, S.F.4
Hauschka, S.D.5
Campbell, K.P.6
Faulkner, J.A.7
Chamberlain, J.S.8
-
30
-
-
0027460658
-
Dystrophin protects the sarcolemma from stresses developed during muscle contraction
-
Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL. 1993. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc. Natl. Acad. Sci. USA 90:3710-3714 (Pubitemid 23111437)
-
(1993)
Proceedings of the National Academy of Sciences of the United States of America
, vol.90
, Issue.8
, pp. 3710-3714
-
-
Petrof, B.J.1
Shrager, J.B.2
Stedman, H.H.3
Kelly, A.M.4
Sweeney, H.L.5
-
31
-
-
0035403114
-
Dystrophin-deficient cardiomyocytes are abnormally vulnerable to mechanical stress-induced contractile failure and injury
-
Danialou G, Comtois AS, Dudley R, Karpati G, Vincent G, et al. 2001. Dystrophin-deficient cardiomyocytes are abnormally vulnerable to mechanical stress-induced contractile failure and injury. FASEB J. 15:1655-1657
-
(2001)
FASEB J.
, vol.15
, pp. 1655-1657
-
-
Danialou, G.1
Comtois, A.S.2
Dudley, R.3
Karpati, G.4
Vincent, G.5
-
33
-
-
0035895903
-
Alteration in Calcium Handling at the Subcellular Level in mdx Myotubes
-
DOI 10.1074/jbc.M006337200
-
Robert V, Massimino ML, Tosello V, Marsault R, Cantini M, et al. 2001. Alteration in calcium handling at the subcellular level in mdx myotubes. J. Biol. Chem. 276:4647-4651 (Pubitemid 37371345)
-
(2001)
Journal of Biological Chemistry
, vol.276
, Issue.7
, pp. 4647-4651
-
-
Robert, V.1
Massimino, M.L.2
Tosello, V.3
Marsault, R.4
Cantini, M.5
Sorrentino, V.6
Pozzan, T.7
-
35
-
-
0017797971
-
Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: A study of 567,000 muscle fibers in 114 biopsies
-
Bodensteiner JB, Engel AG. 1978. Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of 567,000 muscle fibers in 114 biopsies. Neurology 28:439-446
-
(1978)
Neurology
, vol.28
, pp. 439-446
-
-
Bodensteiner, J.B.1
Engel, A.G.2
-
36
-
-
0025317892
-
Calcium entry through stretch-inactivated ion channels in mdx myotubes
-
DOI 10.1038/344670a0
-
Franco A Jr, Lansman JB. 1990. Calcium entry through stretch-inactivated ion channels in mdx myotubes. Nature 344:670-673 (Pubitemid 20108369)
-
(1990)
Nature
, vol.344
, Issue.6267
, pp. 670-673
-
-
Franco Jr., A.1
Lansman, J.B.2
-
37
-
-
0037119993
-
Involvement of TRPC in the abnormal calcium influx observed in dystrophic (mdx) mouse skeletal muscle fibers
-
DOI 10.1083/jcb.200203091
-
Vandebrouck C, Martin D, Colson-Van Schoor M, Debaix H, Gailly P. 2002. Involvement of TRPC in the abnormal calcium influx observed in dystrophic (mdx) mouse skeletal muscle fibers. J. Cell Biol. 158:1089-1096 (Pubitemid 35052691)
-
(2002)
Journal of Cell Biology
, vol.158
, Issue.6
, pp. 1089-1096
-
-
Vandebrouck, C.1
Martin, D.2
Schoor, M.C.-V.3
Debaix, H.4
Gailly, P.5
-
39
-
-
0034468908
-
How calcium influx through calcium leak channels is responsible for the elevated levels of calcium-dependent proteolysis in dystrophic myotubes
-
DOI 10.1016/S1050-1738(00)00075-X, PII S105017380000075X
-
Alderton JM, Steinhardt RA. 2000. How calcium influx through calcium leak channels is responsible for the elevated levels of calcium-dependent proteolysis in dystrophic myotubes. Trends Cardiovasc. Med. 10:268-272 (Pubitemid 32229884)
-
(2000)
Trends in Cardiovascular Medicine
, vol.10
, Issue.6
, pp. 268-272
-
-
Alderton, J.M.1
Steinhardt, R.A.2
-
41
-
-
0038337815
-
The calpain system
-
Goll DE, Thompson VF, Li H, Wei W, Cong J. 2003. The calpain system. Physiol. Rev. 83:731-801
-
(2003)
Physiol. Rev.
, vol.83
, pp. 731-801
-
-
Goll, D.E.1
Thompson, V.F.2
Li, H.3
Wei, W.4
Cong, J.5
-
42
-
-
30744439614
-
Regulation of store-operated calcium entries and mitochondrial uptake by minidystrophin expression in cultured myotubes
-
DOI 10.1096/fj.04-3633fje
-
Vandebrouck A, Ducret T, Basset O, Sebille S, Raymond G, et al. 2006. Regulation of storeoperated calcium entries and mitochondrial uptake by minidystrophin expression in cultured myotubes. FASEB J. 20:136-138 (Pubitemid 43100492)
-
(2006)
FASEB Journal
, vol.20
, Issue.1
, pp. 136-138
-
-
Vandebrouck, A.1
Ducret, T.2
Basset, O.3
Sebille, S.4
Raymond, G.5
Ruegg, U.6
Gailly, P.7
Cognard, C.8
Constantin, B.9
-
43
-
-
41849118741
-
Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy
-
Millay DP, Sargent MA, Osinska H, Baines CP, Barton ER, et al. 2008. Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat. Med. 14:442-447
-
(2008)
Nat. Med.
, vol.14
, pp. 442-447
-
-
Millay, D.P.1
Sargent, M.A.2
Osinska, H.3
Baines, C.P.4
Barton, E.R.5
-
44
-
-
0141760313
-
Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins
-
Bonuccelli G, Sotgia F, Schubert W, Park DS, Frank PG, et al. 2003. Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophinassociated proteins. Am. J. Pathol. 163:1663-1675 (Pubitemid 37175113)
-
(2003)
American Journal of Pathology
, vol.163
, Issue.4
, pp. 1663-1675
-
-
Bonuccelli, G.1
Sotgia, F.2
Schubert, W.3
Park, D.S.4
Frank, P.G.5
Woodman, S.E.6
Insabato, L.7
Cammer, M.8
Minetti, C.9
Lisanti, M.P.10
-
45
-
-
0036798005
-
Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology
-
Spencer MJ, Mellgren RL. 2002. Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology. Hum. Mol. Genet. 11:2645-2655 (Pubitemid 35174694)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.21
, pp. 2645-2655
-
-
Spencer, M.J.1
Mellgren, R.L.2
-
46
-
-
0032007205
-
Muscle cells from mdx mice have an increased susceptibility to oxidative stress
-
DOI 10.1016/S0960-8966(97)00124-7, PII S0960896697001247
-
Rando TA, Disatnik MH, Yu Y, Franco A. 1998. Muscle cells from mdx mice have an increased susceptibility to oxidative stress. Neuromuscular Disord. 8:14-21 (Pubitemid 28174930)
-
(1998)
Neuromuscular Disorders
, vol.8
, Issue.1
, pp. 14-21
-
-
Rando, T.A.1
Disatnik, M.-H.2
Yu, Y.3
Franco, A.4
-
48
-
-
0035494438
-
A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice
-
DOI 10.1083/jcb.200105110
-
Wehling M, Spencer MJ, Tidball JG. 2001. A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. J. Cell Biol. 155:123-131 (Pubitemid 34286213)
-
(2001)
Journal of Cell Biology
, vol.155
, Issue.1
, pp. 123-131
-
-
Wehling, M.1
Spencer, M.J.2
Tidball, J.G.3
-
49
-
-
0033175570
-
Role for α-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies
-
Grady RM, Grange RW, Lau KS, Maimone MM, Nichol MC, et al. 1999. Role for α-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nat. Cell Biol. 1:215-220 (Pubitemid 129500940)
-
(1999)
Nature Cell Biology
, vol.1
, Issue.4
, pp. 215-220
-
-
Grady, R.M.1
Grange, R.W.2
Lau, K.S.3
Maimone, M.M.4
Nichol, M.C.5
Stull, J.T.6
Sanes, J.R.7
-
50
-
-
0031898432
-
Mdx muscle pathology is independent of nNOS perturbation
-
DOI 10.1093/hmg/7.5.823
-
Crosbie RH, Straub V, Yun HY, Lee JC, Rafael JA, et al. 1998. mdx muscle pathology is independent of nNOS perturbation. Hum. Mol. Genet. 7:823-829 (Pubitemid 28221245)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.5
, pp. 823-829
-
-
Crosbie, R.H.1
Straub, V.2
Yun, H.-Y.3
Lee, J.C.4
Rafael, J.A.5
Chamberlain, J.S.6
Dawson, V.L.7
Dawson, T.M.8
Campbell, K.P.9
-
51
-
-
0035891532
-
Role of nitric oxide in the pathogenesis of muscular dystrophies: A "two hit" hypothesis of the cause of muscle necrosis
-
Rando TA. 2001. Role of nitric oxide in the pathogenesis of muscular dystrophies: a "two hit" hypothesis of the cause of muscle necrosis. Microsc. Res. Tech. 55:223-235
-
(2001)
Microsc. Res. Tech.
, vol.55
, pp. 223-235
-
-
Rando, T.A.1
-
52
-
-
0030048479
-
Modulation of superoxide-dependent oxidation and hydroxylation reactions by nitric oxide
-
Miles AM, Bohle DS, Glassbrenner PA, Hanser B, Wink DA, Grisham MB. 1996. Modulation of superoxide-dependent oxidation and hydroxylation reactions by nitric oxide. J. Biol. Chem. 271:40-47
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 40-47
-
-
Miles, A.M.1
Bohle, D.S.2
Glassbrenner, P.A.3
Hanser, B.4
Wink, D.A.5
Grisham, M.B.6
-
53
-
-
33645450207
-
Sarcolemmal damage in dystrophin deficiency is modulated by synergistic interactions between mechanical and oxidative/ nitrosative stresses
-
Dudley RW, Danialou G, Govindaraju K, Lands L, Eidelman DE, Petrof BJ. 2006. Sarcolemmal damage in dystrophin deficiency is modulated by synergistic interactions between mechanical and oxidative/ nitrosative stresses. Am. J. Pathol. 168:1276-1287
-
(2006)
Am. J. Pathol.
, vol.168
, pp. 1276-1287
-
-
Dudley, R.W.1
Danialou, G.2
Govindaraju, K.3
Lands, L.4
Eidelman, D.E.5
Petrof, B.J.6
-
54
-
-
0018758714
-
Catalase, superoxide dismutase, glutathione reductase and thiobarbituric acid-reactive products in normal and dystrophic human muscle
-
Kar NC, Pearson CM. 1979. Catalase, superoxide dismutase, glutathione reductase and thiobarbituric acid-reactive products in normal and dystrophic human muscle. Clin. Chim. Acta 94:277-280
-
(1979)
Clin. Chim. Acta
, vol.94
, pp. 277-280
-
-
Kar, N.C.1
Pearson, C.M.2
-
55
-
-
24644459876
-
Lipid imaging by gold cluster time-of-flight secondary ion mass spectrometry: Application to Duchenne muscular dystrophy
-
DOI 10.1194/jlr.M500058-JLR200
-
Touboul D, Brunelle A, Halgand F, De La Porte S, Laprevote O. 2005. Lipid imaging by gold cluster time-of-flight secondary ion mass spectrometry: application to Duchenne muscular dystrophy. J. Lipid. Res. 46:1388-1395 (Pubitemid 43109802)
-
(2005)
Journal of Lipid Research
, vol.46
, Issue.7
, pp. 1388-1395
-
-
Touboul, D.1
Brunelle, A.2
Halgand, F.3
De La Porte, S.4
Laprevote, O.5
-
56
-
-
0032569827
-
Evidence of oxidative stress in mdx mouse muscle: Studies of the pre- Necrotic state
-
DOI 10.1016/S0022-510X(98)00258-5, PII S0022510X98002585
-
Disatnik MH, Dhawan J, Yu Y, Beal MF, Whirl MM, et al. 1998. Evidence of oxidative stress in mdx mouse muscle: studies of the prenecrotic state. J. Neurol. Sci. 161:77-84 (Pubitemid 28559187)
-
(1998)
Journal of the Neurological Sciences
, vol.161
, Issue.1
, pp. 77-84
-
-
Disatnik, M.-H.1
Dhawan, J.2
Yu, Y.3
Beal, M.F.4
Whirl, M.M.5
Franco, A.A.6
Rando, T.A.7
-
57
-
-
0030861564
-
Oxidative stress as a potential pathogenic mechanism in an animal model of Duchenne muscular dystrophy
-
Ragusa RJ, Chow CK, Porter JD. 1997. Oxidative stress as a potential pathogenic mechanism in an animal model of Duchenne muscular dystrophy. Neuromuscular Disord. 7:379-386
-
(1997)
Neuromuscular Disord.
, vol.7
, pp. 379-386
-
-
Ragusa, R.J.1
Chow, C.K.2
Porter, J.D.3
-
58
-
-
0036194789
-
Green tea extract decreases muscle necrosis in mdx mice and protects against reactive oxygen species
-
Buetler TM, Renard M, Offord EA, Schneider H, Ruegg UT. 2002. Green tea extract decreases muscle necrosis in mdx mice and protects against reactive oxygen species. Am. J. Clin. Nutr. 75:749-753 (Pubitemid 34250689)
-
(2002)
American Journal of Clinical Nutrition
, vol.75
, Issue.4
, pp. 749-753
-
-
Buetler, T.M.1
Renard, M.2
Offord, E.A.3
Schneider, H.4
Ruegg, U.T.5
-
59
-
-
0032531046
-
Effects of iron deprivation on the pathology and stress protein expression in murine X-linked muscular dystrophy
-
DOI 10.1016/S0006-2952(98)00055-0, PII S0006295298000550
-
Bornman L, Rossouw H, Gericke GS, Polla BS. 1998. Effects of iron deprivation on the pathology and stress protein expression in murine X-linked muscular dystrophy. Biochem. Pharmacol. 56:751-757 (Pubitemid 28454586)
-
(1998)
Biochemical Pharmacology
, vol.56
, Issue.6
, pp. 751-757
-
-
Bornman, L.1
Rossouw, H.2
Gericke, G.S.3
Polla, B.S.4
-
60
-
-
0024230749
-
Selenium and vitamin e treatment of Duchenne muscular dystrophy: No effect on muscle function
-
Backman E, Nylander E, Johansson I, Henriksson KG, Tagesson C. 1988. Selenium and vitamin E treatment of Duchenne muscular dystrophy: no effect on muscle function. Acta Neurol. Scand. 78:429-435
-
(1988)
Acta Neurol. Scand.
, vol.78
, pp. 429-435
-
-
Backman, E.1
Nylander, E.2
Johansson, I.3
Henriksson, K.G.4
Tagesson, C.5
-
61
-
-
0023788228
-
Clinical investigation in Duchenne muscular dystrophy: Penicillamine and vitamin e
-
DOI 10.1002/mus.880111110
-
Fenichel GM, Brooke MH, Griggs RC, Mendell JR, Miller JP, et al. 1988. Clinical investigation in Duchenne muscular dystrophy: penicillamine and vitamin E. Muscle Nerve 11:1164-1168 (Pubitemid 18263154)
-
(1988)
Muscle and Nerve
, vol.11
, Issue.11
, pp. 1164-1168
-
-
Fenichel, G.M.1
Brooke, M.H.2
Griggs, R.C.3
Mendell, J.R.4
Miller, J.P.5
Moxley III, R.T.6
Park, J.H.7
Provine, M.A.8
Florence, J.9
Kaiser, K.K.10
King, W.M.11
Pandya, S.12
Robison, J.13
Signore, L.14
-
62
-
-
33644640143
-
Lipid peroxidation inhibition blunts nuclear factor-κB activation, reduces skeletal muscle degeneration, and enhances muscle function in mdx mice
-
DOI 10.2353/ajpath.2006.050673
-
Messina S, Altavilla D, Aguennouz M, Seminara P, Minutoli L, et al. 2006. Lipid peroxidation inhibition blunts nuclear factor-κB activation, reduces skeletal muscle degeneration, and enhances muscle function in mdx mice. Am. J. Pathol. 168:918-926 (Pubitemid 43327744)
-
(2006)
American Journal of Pathology
, vol.168
, Issue.3
, pp. 918-926
-
-
Messina, S.1
Altavilla, D.2
Aguennouz, M.3
Seminara, P.4
Minutoli, L.5
Monici, M.C.6
Bitto, A.7
Mazzeo, A.8
Marini, H.9
Squadrito, F.10
Vita, G.11
-
63
-
-
0037336186
-
Mechanical stress activates the nuclear factor-kappaB pathway in skeletal muscle fibers: A possible role in Duchenne muscular dystrophy
-
DOI 10.1096/fj.02-0542com
-
Kumar A, Boriek AM. 2003. Mechanical stress activates the nuclear factor-κB pathway in skeletal muscle fibers: a possible role in Duchenne muscular dystrophy. FASEB J. 17:386-396 (Pubitemid 36292954)
-
(2003)
FASEB Journal
, vol.17
, Issue.3
, pp. 386-396
-
-
Kumar, A.1
Boriek, A.M.2
-
64
-
-
3242776169
-
Impact of TNF-α blockade on TGF-β1 and type I collagen mRNA expression in dystrophic muscle
-
Gosselin LE, Martinez DA. 2004. Impact of TNF-α blockade on TGF-β1 and type I collagen mRNA expression in dystrophic muscle. Muscle Nerve 30:244-246
-
(2004)
Muscle Nerve
, vol.30
, pp. 244-246
-
-
Gosselin, L.E.1
Martinez, D.A.2
-
65
-
-
1842454966
-
Anti-TNFα (Remicade) therapy protects dystrophic skeletal muscle from necrosis
-
DOI 10.1096/fj.03-1024com
-
Grounds MD, Torrisi J. 2004. Anti-TNFα (Remicade) therapy protects dystrophic skeletal muscle from necrosis. FASEB J. 18:676-682 (Pubitemid 38451789)
-
(2004)
FASEB Journal
, vol.18
, Issue.6
, pp. 676-682
-
-
Grounds, M.D.1
Torrisi, J.2
-
66
-
-
19944430382
-
A multidisciplinary evaluation of the effectiveness of cyclosporine a in dystrophic Mdx mice
-
De Luca A, Nico B, Liantonio A, Didonna MP, Fraysse B, et al. 2005. A multidisciplinary evaluation of the effectiveness of cyclosporine A in dystrophic mdx mice. Am. J. Pathol. 166:477-489 (Pubitemid 40189044)
-
(2005)
American Journal of Pathology
, vol.166
, Issue.2
, pp. 477-489
-
-
De Luca, A.1
Nico, B.2
Liantonio, A.3
Didonna, M.P.4
Fraysse, B.5
Pierno, S.6
Burdi, R.7
Mangieri, D.8
Rolland, J.-F.9
Camerino, C.10
Zallone, A.11
Confalonieri, P.12
Andreetta, F.13
Arnoldi, E.14
Courdier-Fruh, I.15
Magyar, J.P.16
Frigeri, A.17
Pisoni, M.18
Svelto, M.19
Camerino, D.C.20
more..
-
67
-
-
32644442731
-
Nuclear factor kappa-B blockade reduces skeletal muscle degeneration and enhances muscle function in Mdx mice
-
DOI 10.1016/j.expneurol.2005.11.021, PII S0014488605004504
-
Messina S, Bitto A, Aguennouz M, Minutoli L, Monici MC, et al. 2006. Nuclear factor κ-B blockade reduces skeletal muscle degeneration and enhances muscle function in Mdx mice. Exp. Neurol. 198:234-241 (Pubitemid 43243761)
-
(2006)
Experimental Neurology
, vol.198
, Issue.1
, pp. 234-241
-
-
Messina, S.1
Bitto, A.2
Aguennouz, M.3
Minutoli, L.4
Monici, M.C.5
Altavilla, D.6
Squadrito, F.7
Vita, G.8
-
68
-
-
0036471858
-
A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice
-
Porter JD, Khanna S, Kaminski HJ, Rao JS, Merriam AP, et al. 2002. A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice. Hum. Mol. Genet. 11:263-272 (Pubitemid 34173355)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.3
, pp. 263-272
-
-
Porter, J.D.1
Khanna, S.2
Kaminski, H.J.3
Sunil Rao, J.4
Merriam, A.P.5
Richmonds, C.R.6
Leahy, P.7
Jingjin, L.8
Wei, G.9
Andrade, F.H.10
-
69
-
-
0037738510
-
Defective membrane repair in dysferlin-deficient muscular dystrophy
-
DOI 10.1038/nature01573
-
Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, et al. 2003. Defective membrane repair in dysferlindeficient muscular dystrophy. Nature 423:168-172 (Pubitemid 36569539)
-
(2003)
Nature
, vol.423
, Issue.6936
, pp. 168-172
-
-
Bansal, D.1
Miyake, K.2
Vogel, S.S.3
Groh, S.4
Chen, C.-C.5
Williamson, R.6
McNeil, P.L.7
Campbell, K.P.8
-
70
-
-
0032955751
-
Dysferlin is a plasma membrane protein and is expressed early in human development
-
Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, et al. 1999. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum. Mol. Genet. 8:855-861 (Pubitemid 29189053)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.5
, pp. 855-861
-
-
Anderson, L.V.B.1
Davison, K.2
Moss, J.A.3
Young, C.4
Cullen, M.J.5
Walsh, J.6
Johnson, M.A.7
Bashir, R.8
Britton, S.9
Keers, S.10
Argov, Z.11
Mahjneh, I.12
Fougerousse, F.13
Beckmann, J.S.14
Bushby, K.M.D.15
-
71
-
-
0030972880
-
A nematode gene required for sperm vesicle fusion
-
Achanzar WE, Ward S. 1997. A nematode gene required for sperm vesicle fusion. J. Cell Sci. 110(Pt. 9):1073-1081 (Pubitemid 27232277)
-
(1997)
Journal of Cell Science
, vol.110
, Issue.9
, pp. 1073-1081
-
-
Achanzar, W.E.1
Ward, S.2
-
72
-
-
0037151075
-
Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains
-
Davis DB, Doherty KR, Delmonte AJ, McNally EM. 2002. Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J. Biol. Chem. 277:22883-22888
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 22883-22888
-
-
Davis, D.B.1
Doherty, K.R.2
Delmonte, A.J.3
McNally, E.M.4
-
73
-
-
17344363640
-
A gene related to caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
-
DOI 10.1038/1689
-
Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, et al. 1998. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat. Genet. 20:37-42 (Pubitemid 28410340)
-
(1998)
Nature Genetics
, vol.20
, Issue.1
, pp. 37-42
-
-
Bashir, R.1
Britton, S.2
Strachan, T.3
Keers, S.4
Vafiadaki, E.5
Lako, M.6
Richard, I.7
Marchand, S.8
Bourg, N.9
Argov, Z.10
Sadeh, M.11
Mahjneh, I.12
Marconi, G.13
Passos-Bueno, M.R.14
Moreira, E.D.S.15
Zatz, M.16
Beckmann, J.S.17
Bushby, K.18
-
74
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
DOI 10.1038/1682
-
Liu J, Aoki M, Illa I, Wu C, Fardeau M, et al. 1998. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat. Genet. 20:31-36 (Pubitemid 28410339)
-
(1998)
Nature Genetics
, vol.20
, Issue.1
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
Wu, C.4
Fardeau, M.5
Angelini, C.6
Serrano, C.7
Andoni Urtizberea, J.8
Hentati, F.9
Hamida, M.B.10
Bohlega, S.11
Culper, E.J.12
Amato, A.A.13
Bossie, K.14
Oeltjen, J.15
Bejaoui, K.16
McKenna-Yasek, D.17
Hosler, B.A.18
Schurr, E.19
Arahata, K.20
De Jong, P.J.21
Brown Jr., R.H.22
more..
-
75
-
-
0032897762
-
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
-
Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, et al. 1999. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum. Mol. Genet. 8:871-877 (Pubitemid 29189055)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.5
, pp. 871-877
-
-
Weiler, T.1
Bashir, R.2
Anderson, L.V.B.3
Davison, K.4
Moss, J.A.5
Britton, S.6
Nylen, E.7
Keers, S.8
Vafiadaki, E.9
Greenberg, C.R.10
Bushby, K.M.D.11
Wrogemann, K.12
-
76
-
-
0033673056
-
Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies
-
Piccolo F, Moore SA, Ford GC, Campbell KP. 2000. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann. Neurol. 48:902-912
-
(2000)
Ann. Neurol.
, vol.48
, pp. 902-912
-
-
Piccolo, F.1
Moore, S.A.2
Ford, G.C.3
Kp, C.4
-
77
-
-
0035849492
-
The earliest pathologic alterations in dysferlinopathy
-
Selcen D, Stilling G, Engel AG. 2001. The earliest pathologic alterations in dysferlinopathy. Neurology 56:1472-1481
-
(2001)
Neurology
, vol.56
, pp. 1472-1481
-
-
Selcen, D.1
Stilling, G.2
Engel, A.G.3
-
78
-
-
33745223285
-
Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro"
-
de Luna N, Gallardo E, Soriano M, Dominguez-Perles R, de la Torre C, et al. 2006. Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro". J. Biol. Chem. 281:17092-17098
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 17092-17098
-
-
De Luna, N.1
Gallardo, E.2
Soriano, M.3
Dominguez-Perles, R.4
De La Torre, C.5
-
79
-
-
0347379869
-
Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing
-
DOI 10.1074/jbc.M307247200
-
Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH Jr. 2003. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J. Biol. Chem. 278:50466-50473 (Pubitemid 37548892)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.50
, pp. 50466-50473
-
-
Lennon, N.J.1
Kho, A.2
Bacskai, B.J.3
Perlmutter, S.L.4
Hyman, B.T.5
Brown Jr., R.H.6
-
81
-
-
0031920515
-
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
-
DOI 10.1038/ng0498-365
-
Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, et al. 1998. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. 18:365-368 (Pubitemid 28158166)
-
(1998)
Nature Genetics
, vol.18
, Issue.4
, pp. 365-368
-
-
Minetti, C.1
Sotgia, F.2
Bruno, C.3
Scartezzini, P.4
Broda, P.5
Bado, M.6
Masetti, E.7
Mazzocco, M.8
Egeo, A.9
Donati, M.A.10
Volonte, D.11
Galbiati, F.12
Cordone, G.13
Bricarelli, F.D.14
Lisanti, M.P.15
Zara, F.16
-
82
-
-
0035880516
-
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
-
Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, et al. 2001. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum. Mol. Genet. 10:1761-1766 (Pubitemid 32899093)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.17
, pp. 1761-1766
-
-
Matsuda, C.1
Hayashi, Y.K.2
Ogawa, M.3
Aoki, M.4
Murayama, K.5
Nishino, I.6
Nonaka, I.7
Arahata, K.8
Brown Jr., R.H.9
-
83
-
-
29644441031
-
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3
-
DOI 10.1093/hmg/ddi434
-
Hernandez-Deviez DJ, Martin S, Laval SH, Lo HP, Cooper ST, et al. 2006. Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum. Mol. Genet. 15:129-142 (Pubitemid 43020111)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.1
, pp. 129-142
-
-
Hernandez-Deviez, D.J.1
Martin, S.2
Laval, S.H.3
Lo, H.P.4
Cooper, S.T.5
North, K.N.6
Bushby, K.7
Parton, R.G.8
-
84
-
-
44449121951
-
Caveolin regulates endocytosis of the muscle repair protein, dysferlin
-
Hernandez-Deviez DJ, Howes MT, Laval SH, Bushby K, Hancock JF, Parton RG. 2008. Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J. Biol. Chem. 283:6476-6488
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 6476-6488
-
-
Hernandez-Deviez, D.J.1
Howes, M.T.2
Laval, S.H.3
Bushby, K.4
Hancock, J.F.5
Parton, R.G.6
-
85
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, et al. 1995. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81:27-40
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
Fougerousse, F.4
Chiannilkulchai, N.5
-
86
-
-
20544465385
-
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display
-
DOI 10.1038/sj.ejhg.5201414
-
Huang Y, Verheesen P, Roussis A, Frankhuizen W, Ginjaar I, et al. 2005. Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. Eur. J. Hum. Genet. 13:721-730 (Pubitemid 40846844)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.6
, pp. 721-730
-
-
Huang, Y.1
Verheesen, P.2
Roussis, A.3
Frankhuizen, W.4
Ginjaar, I.5
Haldane, F.6
Laval, S.7
Anderson, L.V.B.8
Verrips, T.9
Frants, R.R.10
De Haard, H.11
Bushby, K.12
Den Dunnen, J.13
Van Der Maarel, S.M.14
-
87
-
-
0033784812
-
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
-
DOI 10.1016/S0960-8966(00)00143-7, PII S0960896600001437
-
Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, et al. 2000. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscular Disord. 10:553-559 (Pubitemid 30798012)
-
(2000)
Neuromuscular Disorders
, vol.10
, Issue.8
, pp. 553-559
-
-
Anderson, L.V.B.1
Harrison, R.M.2
Pogue, R.3
Vafiadaki, E.4
Pollitt, C.5
Davison, K.6
Moss, J.A.7
Keers, S.8
Pyle, A.9
Shaw, P.J.10
Mahjneh, I.11
Argov, Z.12
Greenberg, C.R.13
Wrogemann, K.14
Bertorini, T.15
Goebel, H.H.16
Beckmann, J.S.17
Bashir, R.18
Bushby, K.M.D.19
-
88
-
-
44849138794
-
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle
-
DOI 10.1093/hmg/ddn081
-
Huang Y, de Morree A, van Remoortere A, Bushby K, Frants RR, et al. 2008. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum. Mol. Genet. 7:1855-1866 (Pubitemid 351791513)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.12
, pp. 1855-1866
-
-
Huang, Y.1
De Morree, A.2
Van Remoortere, A.3
Bushby, K.4
Frants, R.R.5
Dunnen, J.T.6
Van Der Maarel, S.M.7
-
89
-
-
33847406320
-
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
-
DOI 10.1096/fj.06-6628com
-
Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, et al. 2007. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J. 21:732-742 (Pubitemid 46348249)
-
(2007)
FASEB Journal
, vol.21
, Issue.3
, pp. 732-742
-
-
Huang, Y.1
Laval, S.H.2
Van Remoortere, A.3
Baudier, J.4
Benaud, C.5
Anderson, L.V.B.6
Straub, V.7
Deelder, A.8
Frants, R.R.9
Den Dunnen, J.T.10
Bushby, K.11
Van Der Maarel, S.M.12
-
90
-
-
0024583598
-
Enhancement of calcium sensitivity of lipocortin I in phospholipid binding induced by limited proteolysis and phosphorylation at the amino terminus as analyzed by phospholipid affinity column chromatography
-
Ando Y, Imamura S, Hong YM, Owada MK, Kakunaga T, Kannagi R. 1989. Enhancement of calcium sensitivity of lipocortin I in phospholipid binding induced by limited proteolysis and phosphorylation at the amino terminus as analyzed by phospholipid affinity column chromatography. J. Biol. Chem. 264:6948-6955 (Pubitemid 19114809)
-
(1989)
Journal of Biological Chemistry
, vol.264
, Issue.12
, pp. 6948-6955
-
-
Ando, Y.1
Imamura, S.2
Hong, Y.-M.3
Owada, M.K.4
Kakunaga, T.5
Kannagi, R.6
-
91
-
-
33746701373
-
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies
-
Cagliani R, Magri F, Toscano A, Merlini L, Fortunato F, et al. 2005. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Hum. Mutat. 26:283
-
(2005)
Hum. Mutat.
, vol.26
, pp. 283
-
-
Cagliani, R.1
Magri, F.2
Toscano, A.3
Merlini, L.4
Fortunato, F.5
-
92
-
-
33845951914
-
Requirement for annexin A1 in plasma membrane repair
-
DOI 10.1074/jbc.M606406200
-
McNeil AK, Rescher U, Gerke V, McNeil PL. 2006. Requirement for annexin A1 in plasma membrane repair. J. Biol. Chem. 281:35202-35207 (Pubitemid 46036558)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.46
, pp. 35202-35207
-
-
McNeil, A.K.1
Rescher, U.2
Gerke, V.3
McNeil, P.L.4
-
93
-
-
0035802119
-
Protein kinase B phosphorylates AHNAK and regulates its subcellular localization
-
DOI 10.1083/jcb.200105121
-
Sussman J, Stokoe D, Ossina N, Shtivelman E. 2001. Protein kinase B phosphorylates AHNAK and regulates its subcellular localization. J. Cell Biol. 154:1019-1030 (Pubitemid 34286181)
-
(2001)
Journal of Cell Biology
, vol.154
, Issue.5
, pp. 1019-1030
-
-
Sussman, J.1
Stokoe, D.2
Ossina, N.3
Shtivelman, E.4
-
95
-
-
0033972161
-
Myoferlin, a candidate gene and potential modifier of muscular dystrophy
-
Davis DB, Delmonte AJ, Ly CT, McNally EM. 2000. Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Hum. Mol. Genet. 9:217-226
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 217-226
-
-
Davis, D.B.1
Delmonte, A.J.2
Ly, C.T.3
McNally, E.M.4
-
96
-
-
31144438673
-
Normal myoblast fusion requires myoferlin
-
DOI 10.1242/dev.02155
-
Doherty KR, Cave A, Davis DB, Delmonte AJ, Posey A, et al. 2005. Normal myoblast fusion requires myoferlin. Development 132:5565-5575 (Pubitemid 43125882)
-
(2005)
Development
, vol.132
, Issue.24
, pp. 5565-5575
-
-
Doherty, K.R.1
Cave, A.2
Davis, D.B.3
Delmonte, A.J.4
Posey, A.5
Early, J.U.6
Hadhazy, M.7
McNally, E.M.8
-
97
-
-
17944377419
-
Dysferlin protein analysis in limb-girdle muscular dystrophies
-
DOI 10.1385/JMN:17:1:71
-
Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, et al. 2001. Dysferlin protein analysis in limb-girdle muscular dystrophies. J. Mol. Neurosci. 17:71-80 (Pubitemid 32928287)
-
(2001)
Journal of Molecular Neuroscience
, vol.17
, Issue.1
, pp. 71-80
-
-
Vainzof, M.1
Anderson, L.V.B.2
McNally, E.M.3
Davis, D.B.4
Faulkner, G.5
Valle, G.6
Moreira, E.S.7
Pavanello, R.C.M.8
Passos-Bueno, M.R.9
Zatz, M.10
-
98
-
-
0032006325
-
HGF/SF is present in normal adult skeletal muscle and is capable of activating satellite cells
-
DOI 10.1006/dbio.1997.8803
-
Tatsumi R, Anderson JE, Nevoret CJ, Halevy O, Allen RE. 1998. HGF/SF is present in normal adult skeletal muscle and is capable of activating satellite cells. Dev. Biol. 194:114-128 (Pubitemid 28115263)
-
(1998)
Developmental Biology
, vol.194
, Issue.1
, pp. 114-128
-
-
Tatsumi, R.1
Anderson, J.E.2
Nevoret, C.J.3
Halevy, O.4
Allen, R.E.5
-
99
-
-
0344827208
-
Notch-mediated restoration of regenerative potential to aged muscle
-
Conboy IM, Conboy MJ, Smythe GM, Rando TA. 2003. Notch-mediated restoration of regenerative potential to aged muscle. Science 302:1575-1577
-
(2003)
Science
, vol.302
, pp. 1575-1577
-
-
Conboy, I.M.1
Conboy, M.J.2
Smythe, G.M.3
Rando, T.A.4
-
100
-
-
0036744815
-
The regulation of Notch signaling controls satellite cell activation and cell fate determination in postnatal myogenesis
-
Conboy IM, Rando TA. 2002. The regulation of Notch signaling controls satellite cell activation and cell fate determination in postnatal myogenesis. Dev. Cell 3:397-409
-
(2002)
Dev. Cell
, vol.3
, pp. 397-409
-
-
Conboy, I.M.1
Rando, T.A.2
-
101
-
-
22744438723
-
Stem cell function, self-renewal, and behavioral heterogeneity of cells from the adult muscle satellite cell niche
-
DOI 10.1016/j.cell.2005.05.010, PII S0092867405004551
-
Collins CA, Olsen I, Zammit PS, Heslop L, Petrie A, et al. 2005. Stem cell function, self-renewal, and behavioral heterogeneity of cells from the adult muscle satellite cell niche. Cell 122:289-301 (Pubitemid 41032991)
-
(2005)
Cell
, vol.122
, Issue.2
, pp. 289-301
-
-
Collins, C.A.1
Olsen, I.2
Zammit, P.S.3
Heslop, L.4
Petrie, A.5
Partridge, T.A.6
Morgan, J.E.7
-
103
-
-
0025646136
-
Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: Implications for cell and gene therapy
-
Webster C, Blau HM. 1990. Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: implications for cell and gene therapy. Somat. Cell Mol. Genet. 16:557-565
-
(1990)
Somat. Cell Mol. Genet.
, vol.16
, pp. 557-565
-
-
Webster, C.1
Blau, H.M.2
-
104
-
-
0033945869
-
Evidence for a myogenic stem cell that is exhausted in dystrophic muscle
-
Heslop L, Morgan JE, Partridge TA. 2000. Evidence for a myogenic stem cell that is exhausted in dystrophic muscle. J. Cell Sci. 113(Pt. 12):2299-2308 (Pubitemid 30426843)
-
(2000)
Journal of Cell Science
, vol.113
, Issue.12
, pp. 2299-2308
-
-
Heslop, L.1
Morgan, J.E.2
Partridge, T.A.3
-
105
-
-
0018424046
-
Quantitative ultrastructural study of muscle satellite cells in Duchenne dystrophy
-
Wakayama Y, Schotland DL, Bonilla E, Orecchio E. 1979. Quantitative ultrastructural study of muscle satellite cells in Duchenne dystrophy. Neurology 29:401-407 (Pubitemid 9111029)
-
(1979)
Neurology
, vol.29
, Issue.3
, pp. 401-407
-
-
Wakayama, Y.1
Schotland, D.L.2
Bonilla, E.3
Orecchio, E.4
-
106
-
-
0021054274
-
A quantitative study of the muscle satellite cells in various neuromuscular disorders
-
Ishimoto S, Goto I, Ohta M, Kuroiwa Y. 1983. A quantitative study of the muscle satellite cells in various neuromuscular disorders. J. Neurol. Sci. 62:303-314 (Pubitemid 14176257)
-
(1983)
Journal of the Neurological Sciences
, vol.62
, Issue.1-3
, pp. 303-314
-
-
Ishimoto, S.1
Goto, I.2
Ohta, M.3
Kuroiwa, Y.4
-
108
-
-
0033958440
-
Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children
-
DOI 10.1016/S0960-8966(99)00093-0, PII S0960896699000930
-
Decary S, Hamida CB, Mouly V, Barbet JP, Hentati F, Butler-Browne GS. 2000. Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children. Neuromuscular Disord. 10:113-120 (Pubitemid 30050623)
-
(2000)
Neuromuscular Disorders
, vol.10
, Issue.2
, pp. 113-120
-
-
Decary, S.1
Ben Hamida, C.2
Mouly, V.3
Barbet, J.P.4
Hentati, F.5
Butler-Browne, G.S.6
-
109
-
-
0030881301
-
Replicative potential and telomere length in human skeletal muscle: Implications for satellite cell-mediated gene therapy
-
Decary S, Mouly V, Hamida CB, Sautet A, Barbet JP, Butler-Browne GS. 1997. Replicative potential and telomere length in human skeletal muscle: implications for satellite cell-mediated gene therapy. Hum. Gene Ther. 8:1429-1438 (Pubitemid 27393998)
-
(1997)
Human Gene Therapy
, vol.8
, Issue.12
, pp. 1429-1438
-
-
Decary, S.1
Mouly, V.2
Ben Hamida, C.3
Sautet, A.4
Barbet, J.P.5
Butler-Browne, G.S.6
-
110
-
-
0033793052
-
Skeletal muscle regeneration and the mitotic clock
-
DOI 10.1016/S0531-5565(00)00151-0, PII S0531556500001510
-
Renault V, Piron-Hamelin G, Forestier C, DiDonna S, Decary S, et al. 2000. Skeletal muscle regeneration and the mitotic clock. Exp. Gerontol. 35:711-719 (Pubitemid 30798068)
-
(2000)
Experimental Gerontology
, vol.35
, Issue.6-7
, pp. 711-719
-
-
Renault, V.1
Piron-Hamelin, G.2
Forestier, C.3
Didonna, S.4
Decary, S.5
Hentati, F.6
Saillant, G.7
Butler-Browne, G.S.8
Mouly, V.9
-
111
-
-
34548267241
-
Telomere shortening in diaphragm and tibialis anterior muscles of aged mdx mice
-
Lund TC, Grange RW, Lowe DA. 2007. Telomere shortening in diaphragm and tibialis anterior muscles of aged mdx mice. Muscle Nerve 36:387-390
-
(2007)
Muscle Nerve
, vol.36
, pp. 387-390
-
-
Lund, T.C.1
Grange, R.W.2
Lowe, D.A.3
-
112
-
-
0030839985
-
Examination of telomere lengths in muscle tissue casts doubt on replicative aging as cause of progression in Duchenne muscular dystrophy
-
Oexle K, Zwirner A, Freudenberg K, Kohlschutter A, Speer A. 1997. Examination of telomere lengths in muscle tissue casts doubt on replicative aging as cause of progression in Duchenne muscular dystrophy. Pediatr. Res. 42:226-231 (Pubitemid 27311345)
-
(1997)
Pediatric Research
, vol.42
, Issue.2
, pp. 226-231
-
-
Oexle, K.1
Zwirner, A.2
Freudenberg, K.3
Kohlschutter, A.4
Speer, A.5
-
113
-
-
0021260779
-
Comparison between the growth pattern of cell cultures from normal and Duchenne dystrophy muscle
-
DOI 10.1016/0022-510X(84)90033-9
-
Delaporte C, Dehaupas M, Fardeau M. 1984. Comparison between the growth pattern of cell cultures from normal and Duchenne dystrophy muscle. J. Neurol. Sci. 64:149-160 (Pubitemid 14111138)
-
(1984)
Journal of the Neurological Sciences
, vol.64
, Issue.2
, pp. 149-160
-
-
Delaporte, C.1
Dehaupas, M.2
Fardeau, M.3
-
114
-
-
0021341805
-
Impaired muscle differentiation in explant cultures of Duchenne muscular dystrophy
-
Jasmin G, Tautu C, Vanasse M, Brochu P, Simoneau R. 1984. Impaired muscle differentiation in explant cultures of Duchenne muscular dystrophy. Lab. Investig. 50:197-207 (Pubitemid 14199081)
-
(1984)
Laboratory Investigation
, vol.50
, Issue.2
, pp. 197-207
-
-
Jasmin, G.1
Tautu, C.2
Vanasse, M.3
-
115
-
-
0033456243
-
Defective growth in vitro of duchenne muscular dystrophy myoblasts: The molecular and biochemical basis
-
DOI 10.1002/(SICI)1097-4644(20000101)76:1<118::AID-JCB12>3.0.CO;2-F
-
Melone MA, Peluso G, Petillo O, Galderisi U, Cotrufo R. 1999. Defective growth in vitro of Duchenne Muscular Dystrophy myoblasts: the molecular and biochemical basis. J. Cell Biochem. 76:118-132 (Pubitemid 30010764)
-
(1999)
Journal of Cellular Biochemistry
, vol.76
, Issue.1
, pp. 118-132
-
-
Melone, M.A.B.1
Peluso, G.2
Petillo, O.3
Galderisi, U.4
Cotrufo, R.5
-
116
-
-
33846946114
-
Angiotensin II type 1 receptor blockade attenuates TGF-β-induced failure of muscle regeneration in multiple myopathic states
-
Cohn RD, van Erp C, Habashi JP, Soleimani AA, Klein EC, et al. 2007. Angiotensin II type 1 receptor blockade attenuates TGF-β-induced failure of muscle regeneration in multiple myopathic states. Nat. Med. 13:204-210
-
(2007)
Nat. Med.
, vol.13
, pp. 204-210
-
-
Cohn, R.D.1
Van Erp, C.2
Habashi, J.P.3
Soleimani, A.A.4
Klein, E.C.5
-
117
-
-
0036678803
-
Release of hepatocyte growth factor from mechanically stretched skeletal muscle satellite cells and role of pH and nitric oxide
-
DOI 10.1091/mbc.E02-01-0062
-
Tatsumi R, Hattori A, Ikeuchi Y, Anderson JE, Allen RE. 2002. Release of hepatocyte growth factor from mechanically stretched skeletal muscle satellite cells and role of pH and nitric oxide. Mol. Biol. Cell 13:2909-2918 (Pubitemid 34907112)
-
(2002)
Molecular Biology of the Cell
, vol.13
, Issue.8
, pp. 2909-2918
-
-
Tatsumi, R.1
Hattori, A.2
Ikeuchi, Y.3
Anderson, J.E.4
Allen, R.E.5
-
118
-
-
0034071559
-
A role for nitric oxide in muscle repair: Nitric oxide-mediated activation of muscle satellite cells
-
Anderson JE. 2000. A role for nitric oxide in muscle repair: nitric oxide-mediated activation of muscle satellite cells. Mol. Biol. Cell 11:1859-1874
-
(2000)
Mol. Biol. Cell
, vol.11
, pp. 1859-1874
-
-
Anderson, J.E.1
-
119
-
-
0028227878
-
Nitric oxide as a messenger molecule for myoblast fusion
-
Lee KH, Baek MY, Moon KY, Song WK, Chung CH, et al. 1994. Nitric oxide as a messenger molecule for myoblast fusion. J. Biol. Chem. 269:14371-14374 (Pubitemid 24193984)
-
(1994)
Journal of Biological Chemistry
, vol.269
, Issue.20
, pp. 14371-14374
-
-
Lee, K.H.1
Baek, M.Y.2
Moon, K.Y.3
Song, W.K.4
Chung, C.H.5
Ha, D.B.6
Kang, M.-S.7
-
120
-
-
0033838429
-
Increased expression of IGF-binding protein-5 in Duchenne muscular dystrophy (DMD) fibroblasts correlates with the fibroblast-induced downregulation of DMD myoblast growth: An in vitro analysis
-
Melone MA, Peluso G, Galderisi U, Petillo O, Cotrufo R. 2000. Increased expression of IGF-binding protein-5 in Duchenne muscular dystrophy (DMD) fibroblasts correlates with the fibroblast-induced downregulation of DMD myoblast growth: an in vitro analysis. J. Cell Physiol. 185:143-153
-
(2000)
J. Cell Physiol.
, vol.185
, pp. 143-153
-
-
Melone, M.A.1
Peluso, G.2
Galderisi, U.3
Petillo, O.4
Cotrufo, R.5
-
121
-
-
36949021815
-
Type I insulin-like growth factor receptor signaling in skeletal muscle regeneration and hypertrophy
-
Philippou A, Halapas A, Maridaki M, Koutsilieris M. 2007. Type I insulin-like growth factor receptor signaling in skeletal muscle regeneration and hypertrophy. J. Musculoskelet. Neuronal Interact. 7:208-218 (Pubitemid 350238147)
-
(2007)
Journal of Musculoskeletal Neuronal Interactions
, vol.7
, Issue.3
, pp. 208-218
-
-
Philippou, A.1
Halapas, A.2
Maridaki, M.3
Koutsilieris, M.4
-
122
-
-
0036544519
-
Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice
-
DOI 10.1083/jcb.200108071
-
Barton ER, Morris L, Musaro A, Rosenthal N, Sweeney HL. 2002. Muscle-specific expression of insulinlike growth factor I counters muscle decline in mdx mice. J. Cell Biol. 157:137-148 (Pubitemid 34847836)
-
(2002)
Journal of Cell Biology
, vol.157
, Issue.1
, pp. 137-147
-
-
Barton, E.R.1
Morris, L.2
Musaro, A.3
Rosenthal, N.4
Lee Sweeney, H.5
-
123
-
-
0033060101
-
Macrophages enhance muscle satellite cell proliferation and delay their differentiation
-
DOI 10.1002/(SICI)1097-4598(199906)22:6<724::AID-MUS9>3.0.CO;2-O
-
Merly F, Lescaudron L, Rouaud T, Crossin F, Gardahaut MF. 1999. Macrophages enhance muscle satellite cell proliferation and delay their differentiation. Muscle Nerve 22:724-732 (Pubitemid 29256841)
-
(1999)
Muscle and Nerve
, vol.22
, Issue.6
, pp. 724-732
-
-
Merly, F.1
Lescaudron, L.2
Rouaud, T.3
Crossin, F.4
Gardahaut, M.F.5
-
124
-
-
0032441093
-
Age-associated changes in the response of skeletal muscle cells to exercise and regeneration
-
DOI 10.1111/j.1749-6632.1998.tb09894.x
-
Grounds MD. 1998. Age-associated changes in the response of skeletal muscle cells to exercise and regeneration. Ann. N. Y. Acad. Sci. 854:78-91 (Pubitemid 29022795)
-
(1998)
Annals of the New York Academy of Sciences
, vol.854
, pp. 78-91
-
-
Grounds, M.D.1
-
125
-
-
13944261231
-
Rejuvenation of aged progenitor cells by exposure to a young systemic environment
-
Conboy IM, Conboy MJ, Wagers AJ, Girma ER, Weissman IL, Rando TA. 2005. Rejuvenation of aged progenitor cells by exposure to a young systemic environment. Nature 433:760-764
-
(2005)
Nature
, vol.433
, pp. 760-764
-
-
Conboy, I.M.1
Conboy, M.J.2
Wagers, A.J.3
Girma, E.R.4
Weissman, I.L.5
Rando, T.A.6
-
126
-
-
51349122205
-
Long-term stem survival of transplanted cells in immunocompetent mice with muscular dystrophy
-
Wallace GQ, Lapidos KA, Kenik JS, McNally EM. 2008. Long-term stem survival of transplanted cells in immunocompetent mice with muscular dystrophy. Am. J. Pathol. 173:792-802
-
(2008)
Am. J. Pathol.
, vol.173
, pp. 792-802
-
-
Wallace, G.Q.1
Lapidos, K.A.2
Kenik, J.S.3
McNally, E.M.4
-
127
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
DOI 10.1038/ng1294-323
-
Bione S, Maestrini E, Rivella S, Mancini M, Regis S, et al. 1994. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat. Genet. 8:323-327 (Pubitemid 24375595)
-
(1994)
Nature Genetics
, vol.8
, Issue.4
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
Toniolo, D.7
-
128
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery- Dreifuss muscular dystrophy
-
DOI 10.1038/6799
-
Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, et al. 1999. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21:285-288 (Pubitemid 29124935)
-
(1999)
Nature Genetics
, vol.21
, Issue.3
, 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
Muntoni, F.7
Greenberg, C.R.8
Gary, F.9
Urtizberea, J.-A.10
Duboc, D.11
Fardeau, M.12
Toniolo, D.13
Schwartz, K.14
-
129
-
-
0034702027
-
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
-
Muchir A, Bonne G, Van Der Kooi AJ, van Meegen M, Baas F, et al. 2000. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum. Mol. Genet. 9:1453-1459 (Pubitemid 30312494)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
Van Der Kool, A.J.3
Van Meegen, M.4
Baas, F.5
Bolhuis, P.A.6
De Visser, M.7
Schwartz, K.8
-
130
-
-
0242272380
-
Asynonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B
-
Todorova A, Halliger-Keller B, Walter MC, Dabauvalle MC, Lochmuller H, Muller CR. 2003. Asynonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B. J. Med. Genet. 40:e115
-
(2003)
J. Med. Genet.
, vol.40
-
-
Todorova, A.1
Halliger-Keller, B.2
Walter, M.C.3
Dabauvalle, M.C.4
Lochmuller, H.5
Muller, C.R.6
-
131
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
-
Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, et al. 1999. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N. Engl. J. Med. 341:1715-1724
-
(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
-
132
-
-
0010397284
-
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
-
DOI 10.1093/hmg/5.6.801
-
Manilal S, Nguyen TM, Sewry CA, Morris GE. 1996. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum. Mol. Genet. 5:801-808 (Pubitemid 26171704)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.6
, pp. 801-808
-
-
Manilal, S.1
Nguyen, T.M.2
Sewry, C.A.3
Morris, G.E.4
-
134
-
-
29944445023
-
Coupling of the nucleus and cytoplasm: Role of the LINC complex
-
DOI 10.1083/jcb.200509124
-
Crisp M, Liu Q, Roux K, Rattner JB, Shanahan C, et al. 2006. Coupling of the nucleus and cytoplasm: role of the LINC complex. J. Cell Biol. 172:41-53 (Pubitemid 43042628)
-
(2006)
Journal of Cell Biology
, vol.172
, Issue.1
, pp. 41-53
-
-
Crisp, M.1
Liu, Q.2
Roux, K.3
Rattner, J.B.4
Shanahan, C.5
Burke, B.6
Stahl, P.D.7
Hodzic, D.8
-
135
-
-
0242365630
-
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: Altered intermolecular interaction with emerin and implications for gene transcription
-
DOI 10.1016/S0014-4827(03)00395-1
-
Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, et al. 2003. Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. Exp. Cell Res. 291:122-134 (Pubitemid 37345152)
-
(2003)
Experimental Cell Research
, vol.291
, Issue.1
, pp. 122-134
-
-
Capanni, C.1
Cenni, V.2
Mattioli, E.3
Sabatelli, P.4
Ognibene, A.5
Columbaro, M.6
Parnaik, V.K.7
Wehnert, M.8
Maraldi, N.M.9
Squarzoni, S.10
Lattanzi, G.11
-
136
-
-
0037225049
-
Expression of lamin a mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy
-
DOI 10.1006/excr.2002.5669
-
Favreau C, Dubosclard E, Ostlund C, Vigouroux C, Capeau J, et al. 2003. Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy. Exp. Cell Res. 282:14-23 (Pubitemid 36062608)
-
(2003)
Experimental Cell Research
, vol.282
, Issue.1
, pp. 14-23
-
-
Favreau, C.1
Dubosclard, E.2
Ostlund, C.3
Vigouroux, C.4
Capeau, J.5
Wehnert, M.6
Higuet, D.7
Worman, H.J.8
Courvalin, J.-C.9
Buendia, B.10
-
137
-
-
4644222709
-
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations
-
DOI 10.1002/mus.20122
-
Muchir A, Medioni J, Laluc M, Massart C, Arimura T, et al. 2004. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve 30:444-450 (Pubitemid 39288147)
-
(2004)
Muscle and Nerve
, vol.30
, Issue.4
, pp. 444-450
-
-
Muchir, A.1
Medioni, J.2
Laluc, M.3
Massart, C.4
Arimura, T.5
Van Der Kooi, A.J.6
Desguerre, I.7
Mayer, M.8
Ferrer, X.9
Briault, S.10
Hirano, M.11
Worman, J.12
Mallet, A.13
Wehnert, M.14
Schwartz, K.15
Bonne, G.16
-
138
-
-
0035691915
-
Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene
-
Vigouroux C, Auclair M, Dubosclard E, Pouchelet M, Capeau J, et al. 2001. Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. J. Cell Sci. 114:4459-4468 (Pubitemid 34082866)
-
(2001)
Journal of Cell Science
, vol.114
, Issue.24
, pp. 4459-4468
-
-
Vigouroux, C.1
Auclair, M.2
Dubosclard, E.3
Pouchelet, M.4
Capeau, J.5
Courvalin, J.-C.6
Buendia, B.7
-
139
-
-
24144481867
-
Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells
-
DOI 10.1083/jcb.200502148
-
Lammerding J, Hsiao J, Schulze PC, Kozlov S, Stewart CL, Lee RT. 2005. Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J. Cell Biol. 170:781-791 (Pubitemid 41242110)
-
(2005)
Journal of Cell Biology
, vol.170
, Issue.5
, pp. 781-791
-
-
Lammerding, J.1
Hsiao, J.2
Schulze, P.C.3
Kozlov, S.4
Stewart, C.L.5
Lee, R.T.6
-
140
-
-
1542317663
-
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
-
DOI 10.1172/JCI200419670
-
Lammerding J, Schulze PC, Takahashi T, Kozlov S, Sullivan T, et al. 2004. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J. Clin. Investig. 113:370-378 (Pubitemid 38544181)
-
(2004)
Journal of Clinical Investigation
, vol.113
, Issue.3
, pp. 370-378
-
-
Lammerding, J.1
Schulze, P.C.2
Takahashi, T.3
Kozlov, S.4
Sullivan, T.5
Kamm, R.D.6
Stewart, C.L.7
Lee, R.T.8
-
142
-
-
11144355499
-
Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice
-
DOI 10.1172/JCI200419448
-
Nikolova V, Leimena C, McMahon AC, Tan JC, Chandar S, et al. 2004. Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J. Clin. Investig. 113:357-369 (Pubitemid 38544180)
-
(2004)
Journal of Clinical Investigation
, vol.113
, Issue.3
, pp. 357-369
-
-
Nikolova, V.1
Leimena, C.2
McMahon, A.C.3
Tan, J.C.4
Chandar, S.5
Jogia, D.6
Kesteven, S.H.7
Michalicek, J.8
Otway, R.9
Verheyen, F.10
Rainer, S.11
Stewart, C.L.12
Martin, D.13
Feneley, M.P.14
Fatkin, D.15
-
143
-
-
32144431571
-
Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration
-
DOI 10.1093/hmg/ddi479
-
Melcon G, Kozlov S, Cutler DA, Sullivan T, Hernandez L, et al. 2006. Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum. Mol. Genet. 15:637-651 (Pubitemid 43205427)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.4
, pp. 637-651
-
-
Melcon, G.1
Koslov, S.2
Cutler, D.A.3
Sullivan, T.4
Hernandez, L.5
Zhao, P.6
Mitchell, S.7
Nader, G.8
Bakay, M.9
Rottman, J.N.10
Hoffman, E.P.11
Stewart, C.L.12
-
144
-
-
32644441628
-
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
-
Bakay M, Wang Z, Melcon G, Schiltz L, Xuan J, et al. 2006. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 129:996-1013
-
(2006)
Brain
, vol.129
, pp. 996-1013
-
-
Bakay, M.1
Wang, Z.2
Melcon, G.3
Schiltz, L.4
Xuan, J.5
-
145
-
-
32644447630
-
Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation
-
Frock RL, Kudlow BA, Evans AM, Jameson SA, Hauschka SD, Kennedy BK. 2006. Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation. Genes Dev. 20:486-500
-
(2006)
Genes Dev.
, vol.20
, pp. 486-500
-
-
Frock, R.L.1
Kudlow, B.A.2
Evans, A.M.3
Jameson, S.A.4
Hauschka, S.D.5
Kennedy, B.K.6
-
146
-
-
0842347426
-
Expression of a Mutant Lamin a that Causes Emery-Dreifuss Muscular Dystrophy Inhibits in Vitro Differentiation of C2C12 Myoblasts
-
DOI 10.1128/MCB.24.4.1481-1492.2004
-
Favreau C, Higuet D, Courvalin JC, Buendia B. 2004. Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. Mol. Cell. Biol. 24:1481-1492 (Pubitemid 38167072)
-
(2004)
Molecular and Cellular Biology
, vol.24
, Issue.4
, pp. 1481-1492
-
-
Favreau, C.1
Higuet, D.2
Courvalin, J.-C.3
Buendia, B.4
-
147
-
-
14044265165
-
Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro
-
DOI 10.1242/jcs.01630
-
Markiewicz E, Ledran M, Hutchison CJ. 2005. Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro. J. Cell Sci. 118:409-420 (Pubitemid 40277352)
-
(2005)
Journal of Cell Science
, vol.118
, Issue.2
, pp. 409-420
-
-
Markiewicz, E.1
Ledran, M.2
Hutchison, C.J.3
-
148
-
-
33748773107
-
Laminopathies: Multiple disorders arising from defects in nuclear architecture
-
Parnaik VK, Manju K. 2006. Laminopathies: multiple disorders arising from defects in nuclear architecture. J. Biosci. 31:405-421 (Pubitemid 44411514)
-
(2006)
Journal of Biosciences
, vol.31
, Issue.3
, pp. 405-421
-
-
Parnaik, V.K.1
Manju, K.2
-
150
-
-
0033564139
-
The transition from proliferation to differentiation is delayed in satellite cells from mice lacking MyoD
-
DOI 10.1006/dbio.1999.9284
-
Yablonka-Reuveni Z, Rudnicki MA, Rivera AJ, Primig M, Anderson JE, Natanson P. 1999. The transition from proliferation to differentiation is delayed in satellite cells from mice lacking MyoD. Dev. Biol. 210:440-455 (Pubitemid 29283015)
-
(1999)
Developmental Biology
, vol.210
, Issue.2
, pp. 440-455
-
-
Yablonka-Reuveni, Z.1
Rudnicki, M.A.2
Rivera, A.J.3
Primig, M.4
Anderson, J.E.5
Natanson, P.6
-
151
-
-
0029954208
-
MyoD is required for myogenic stem cell function in adult skeletal muscle
-
Megeney LA, Kablar B, Garrett K, Anderson JE, Rudnicki MA. 1996. MyoD is required for myogenic stem cell function in adult skeletal muscle. Genes Dev. 10:1173-1183 (Pubitemid 26171100)
-
(1996)
Genes and Development
, vol.10
, Issue.10
, pp. 1173-1183
-
-
Megeney, L.A.1
Kablar, B.2
Garrett, K.3
Anderson, J.E.4
Rudnicki, M.A.5
|