-
1
-
-
77953541564
-
Congenital muscular dystrophy
-
Edited by Squire LR. London, Oxford, Boston, New York, and San Diego: Academic Press;
-
Bönnemann CG: Congenital muscular dystrophy. In Encyclopedia of Neuroscience. Edited by Squire LR. London, Oxford, Boston, New York, and San Diego: Academic Press; 2008:67-74.
-
(2008)
Encyclopedia of Neuroscience
, pp. 67-74
-
-
Bönnemann, C.G.1
-
2
-
-
42149181389
-
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1- related myopathy
-
Schara U, Kress W, Bönnemann CG, et al.: The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1- related myopathy. Eur J Paediatr Neurol 2008, 12:224-230.
-
(2008)
Eur J Paediatr Neurol
, vol.12
, pp. 224-230
-
-
Schara, U.1
Kress, W.2
Bönnemann, C.G.3
-
3
-
-
68249154901
-
Natural history of Ullrich congenital muscular dystrophy
-
Nadeau A, Kinali M, Main M, et al.: Natural history of Ullrich congenital muscular dystrophy. Neurology 2009, 73:25-31.
-
(2009)
Neurology
, vol.73
, pp. 25-31
-
-
Nadeau, A.1
Kinali, M.2
Main, M.3
-
4
-
-
33845286555
-
Human laminopathies: Nuclei gone genetically awry
-
Capell BC, Collins FS: Human laminopathies: Nuclei gone genetically awry. Nat Rev Genet 2006, 7:940-952.
-
(2006)
Nat Rev Genet
, vol.7
, pp. 940-952
-
-
Capell, B.C.1
Collins, F.S.2
-
5
-
-
32244440192
-
Dystroglycan: From biosynthesis to pathogenesis of human disease
-
Barresi R, Campbell KP: Dystroglycan: From biosynthesis to pathogenesis of human disease. J Cell Sci 2006, 119:199-207.
-
(2006)
J Cell Sci
, vol.119
, pp. 199-207
-
-
Barresi, R.1
Campbell, K.P.2
-
6
-
-
43449084043
-
Muscular dystrophies due to defective glycosylation of dystroglycan
-
Muntoni F, Brockington M, Godfrey C, et al.: Muscular dystrophies due to defective glycosylation of dystroglycan. Acta Myol 2007, 26:129-135.
-
(2007)
Acta Myol
, vol.26
, pp. 129-135
-
-
Muntoni, F.1
Brockington, M.2
Godfrey, C.3
-
7
-
-
34848837334
-
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
-
Godfrey C, Clement E, Mein R, et al.: Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007, 130:2725-2735.
-
(2007)
Brain
, vol.130
, pp. 2725-2735
-
-
Godfrey, C.1
Clement, E.2
Mein, R.3
-
8
-
-
69149093522
-
Basal lamina strengthens cell membrane integrity via the laminin G domainbinding motif of alpha-dystroglycan
-
Han R, Kanagawa M, Yoshida-Moriguchi T, et al. Basal lamina strengthens cell membrane integrity via the laminin G domainbinding motif of alpha-dystroglycan. Proc Natl Acad Sci U S A 2009,106:12573-12579.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 12573-12579
-
-
Han, R.1
Kanagawa, M.2
Yoshida-Moriguchi, T.3
-
9
-
-
0037173629
-
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
-
Moore SA, Saito F, Chen J, et al.: Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 2002, 418:422-425.
-
(2002)
Nature
, vol.418
, pp. 422-425
-
-
Moore, S.A.1
Saito, F.2
Chen, J.3
-
10
-
-
69949154343
-
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity
-
Jimenez-Mallebrera C, Torelli S, Feng L, et al.: A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathol 2009, 19:596-611.
-
(2009)
Brain Pathol
, vol.19
, pp. 596-611
-
-
Jimenez-Mallebrera, C.1
Torelli, S.2
Feng, L.3
-
11
-
-
3142731311
-
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies
-
Barresi R, Michele DE, KanagawaM, et al.: LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 2004, 10:696-703.
-
(2004)
Nat Med
, vol.10
, pp. 696-703
-
-
Barresi, R.1
Michele, D.E.2
Kanagawa, M.3
-
12
-
-
2942733346
-
Molecular recognition by LARGE is essential for expression of functional dystroglycan
-
Kanagawa M, Saito F, Kunz S, et al.: Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 2004, 117:953-964.
-
(2004)
Cell
, vol.117
, pp. 953-964
-
-
Kanagawa, M.1
Saito, F.2
Kunz, S.3
-
13
-
-
0028340350
-
Molecular cloning of a murine Nacetylgalactosamine transferase cDNA that determines expression of the T lymphocyte-specific CT oligosaccharide differentiation antigen
-
Smith PL, Lowe JB: Molecular cloning of a murine Nacetylgalactosamine transferase cDNA that determines expression of the T lymphocyte-specific CT oligosaccharide differentiation antigen. J Biol Chem 1994, 269:15162-15171.
-
(1994)
J Biol Chem
, vol.269
, pp. 15162-15171
-
-
Smith, P.L.1
Lowe, J.B.2
-
14
-
-
0036252145
-
Modulation of agrin binding and activity by the CT and related carbohydrate antigens
-
Xia B, Martin PT: Modulation of agrin binding and activity by the CT and related carbohydrate antigens. Mol Cell Neurosci 2002, 19:539-551.
-
(2002)
Mol Cell Neurosci
, vol.19
, pp. 539-551
-
-
Xia, B.1
Martin, P.T.2
-
15
-
-
34247588271
-
PTC124 targets genetic disorders caused by nonsense mutations
-
Ataluren (PTC124) is now completing phase 2b clinical trials in Duchenne muscular dystrophy. As a drug designed to cause readthough through premature termination codons, ataluren is one of the first mutation-specific treatment approaches that also might be relevant to other neuromuscular disorders with premature termination codons
-
Welch EM, Barton ER, Zhuo J, et al.: PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007, 447:87-91. Ataluren (PTC124) is now completing phase 2b clinical trials in Duchenne muscular dystrophy. As a drug designed to cause readthough through premature termination codons, ataluren is one of the first mutation-specific treatment approaches that also might be relevant to other neuromuscular disorders with premature termination codons.
-
(2007)
Nature
, vol.447
, pp. 87-91
-
-
Welch, E.M.1
Barton, E.R.2
Zhuo, J.3
-
16
-
-
37349013379
-
A counterintuitive approach to treat enzyme deficiencies: Use of enzyme inhibitors for restoring mutant enzyme activity
-
Fan JQ: A counterintuitive approach to treat enzyme deficiencies: Use of enzyme inhibitors for restoring mutant enzyme activity. Biol Chem 2008, 389:1-11.
-
(2008)
Biol Chem
, vol.389
, pp. 1-11
-
-
Fan, J.Q.1
-
17
-
-
30344435305
-
Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors
-
Blankinship MJ, Gregorevic P, Chamberlain JS: Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors. Mol Ther 2006, 13:241-249.
-
(2006)
Mol Ther
, vol.13
, pp. 241-249
-
-
Blankinship, M.J.1
Gregorevic, P.2
Chamberlain, J.S.3
-
18
-
-
24744467776
-
Amelioration of laminin-{alpha}2- deficient congenital muscular dystrophy by somatic gene transfer of miniagrin
-
Qiao C, Li J, Zhu T, et al.: Amelioration of laminin-{alpha}2- deficient congenital muscular dystrophy by somatic gene transfer of miniagrin. Proc Natl Acad Sci U S A 2005, 102:11999-12004.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 11999-12004
-
-
Qiao, C.1
Li, J.2
Zhu, T.3
-
19
-
-
17344372250
-
Mutations in the integrin a7 gene cause congenital myopathy
-
Hayashi YK, Chou F-L, Engvall E, et al.: Mutations in the integrin a7 gene cause congenital myopathy. Nature Genet 1998, 19:94-97.
-
(1998)
Nature Genet
, vol.19
, pp. 94-97
-
-
Hayashi, Y.K.1
Chou, F-L.2
Engvall, E.3
-
20
-
-
0032588041
-
The alpha7beta1 integrin in muscle development and disease
-
Burkin DJ, Kaufman SJ: The alpha7beta1 integrin in muscle development and disease. Cell Tissue Res 1999, 296:183-190.
-
(1999)
Cell Tissue Res
, vol.296
, pp. 183-190
-
-
Burkin, D.J.1
Kaufman, S.J.2
-
21
-
-
58249110400
-
Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy
-
Rooney JE, Gurpur PB, Yablonka-Reuveni Z, et al.: Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy. Am J Pathol 2009, 174:256-264.
-
(2009)
Am J Pathol
, vol.174
, pp. 256-264
-
-
Rooney, J.E.1
Gurpur, P.B.2
Yablonka-Reuveni, Z.3
-
22
-
-
0036080951
-
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology
-
Pegoraro E, Cepollaro F, Prandini P, et al.: Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology. Am J Pathol 2002, 160:2135-2143.
-
(2002)
Am J Pathol
, vol.160
, pp. 2135-2143
-
-
Pegoraro, E.1
Cepollaro, F.2
Prandini, P.3
-
23
-
-
33745493594
-
Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin
-
Rooney JE, Welser JV, Dechert MA, et al.: Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin. J Cell Sci 2006, 119:2185-2195.
-
(2006)
J Cell Sci
, vol.119
, pp. 2185-2195
-
-
Rooney, J.E.1
Welser, J.V.2
Dechert, M.A.3
-
24
-
-
39349089905
-
Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression
-
Liu J, Burkin DJ, Kaufman SJ: Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression. Am J Physiol Cell Physiol 2008, 294:C627-C640.
-
(2008)
Am J Physiol Cell Physiol
, vol.294
-
-
Liu, J.1
Burkin, D.J.2
Kaufman, S.J.3
-
25
-
-
0030809116
-
Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies
-
Hodges BL, Hayashi YK, Nonaka I, et al.: Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. J Cell Sci 1997, 110:2873-2881.
-
(1997)
J Cell Sci
, vol.110
, pp. 2873-2881
-
-
Hodges, B.L.1
Hayashi, Y.K.2
Nonaka, I.3
-
26
-
-
66049117408
-
Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy
-
This study suggests the possibility of protein therapy, that is, the concept that a systemically delivered protein may improve pathology
-
Rooney JE, Gurpur PB, Burkin DJ: Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. Proc Natl Acad Sci U S A 2009, 106:7991-7996. This study suggests the possibility of protein therapy, that is, the concept that a systemically delivered protein may improve pathology.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 7991-7996
-
-
Rooney, J.E.1
Gurpur, P.B.2
Burkin, D.J.3
-
27
-
-
33846265912
-
Congenital muscular dystrophies: New aspects of an expanding group of disorders
-
Lisi MT, Cohn RD: Congenital muscular dystrophies: New aspects of an expanding group of disorders. Biochim Biophys Acta 2007, 1772:159-172.
-
(2007)
Biochim Biophys Acta
, vol.1772
, pp. 159-172
-
-
Lisi, M.T.1
Cohn, R.D.2
-
28
-
-
0030783172
-
Animal models for muscular dystrophy show different patterns of sarcolemmal disruption
-
Straub V, Rafael JA, Chamberlain JS, et al.: Animal models for muscular dystrophy show different patterns of sarcolemmal disruption. J Cell Biol 1997, 139:375-385.
-
(1997)
J Cell Biol
, vol.139
, pp. 375-385
-
-
Straub, V.1
Rafael, J.A.2
Chamberlain, J.S.3
-
29
-
-
34249857394
-
The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alphα2-deficient congenital muscular dystrophy
-
Hall TE, Bryson-Richardson RJ, Berger S, et al.: The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alphα2-deficient congenital muscular dystrophy. Proc Natl Acad Sci U S A 2007, 104:7092-7097.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 7092-7097
-
-
Hall, T.E.1
Bryson-Richardson, R.J.2
Berger, S.3
-
30
-
-
0029794008
-
Merosin and laminin in myogenesis; Specific requirement for merosin in myotube stability and survival
-
Vachon PH, Loechel F, Xu H, et al.: Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival. J Cell Biol 1996, 134:1483-1497.
-
(1996)
J Cell Biol
, vol.134
, pp. 1483-1497
-
-
Vachon, P.H.1
Loechel, F.2
Xu, H.3
-
31
-
-
85047693919
-
Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy
-
Girgenrath M, Dominov JA, Kostek CA, et al.: Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy. J Clin Invest 2004, 114:1635-1639.
-
(2004)
J Clin Invest
, vol.114
, pp. 1635-1639
-
-
Girgenrath, M.1
Dominov, J.A.2
Kostek, C.A.3
-
32
-
-
17744385764
-
Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2- deficient, but not in dystrophin-deficient, mice
-
Dominov JA, Kravetz AJ, Ardelt M, et al.: Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2- deficient, but not in dystrophin-deficient, mice. Hum Mol Genet 2005, 14:1029-1040.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1029-1040
-
-
Dominov, J.A.1
Kravetz, A.J.2
Ardelt, M.3
-
33
-
-
0035030357
-
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy
-
Hayashi YK, Tezak Z, Momoi T, et al.: Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscul Disord 2001, 11:350-359.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 350-359
-
-
Hayashi, Y.K.1
Tezak, Z.2
Momoi, T.3
-
34
-
-
73349085584
-
Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-{alpha}2 deficiency
-
This study provides evidence that a small molecule pharmaceutic with antiapoptotic properties may ameliorate CMDs in which apoptosis appears to play a significant component in the pathogenesis (including MDC1A and collagen VI-deficient CMD) and therefore is a candidate for further clinical studies in these conditions. Omigapil already has been in clinical trials in patients with amyotrophic lateral sclerosis
-
Erb M, Meinen S, Barzaghi P, et al.: Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-{alpha}2 deficiency. J Pharmacol Exp Ther 2009, 331:787-795. This study provides evidence that a small molecule pharmaceutic with antiapoptotic properties may ameliorate CMDs in which apoptosis appears to play a significant component in the pathogenesis (including MDC1A and collagen VI-deficient CMD) and therefore is a candidate for further clinical studies in these conditions. Omigapil already has been in clinical trials in patients with amyotrophic lateral sclerosis.
-
(2009)
J Pharmacol Exp Ther
, vol.331
, pp. 787-795
-
-
Erb, M.1
Meinen, S.2
Barzaghi, P.3
-
35
-
-
34548119851
-
Phase II/III randomized trial of TCH346 in patients with ALS
-
Miller R, Bradley W, Cudkowicz M, et al.: Phase II/III randomized trial of TCH346 in patients with ALS. Neurology 2007, 69:776-784.
-
(2007)
Neurology
, vol.69
, pp. 776-784
-
-
Miller, R.1
Bradley, W.2
Cudkowicz, M.3
-
36
-
-
60849118087
-
Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy
-
This study used already-approved drugs (minocycline and doxycycline) to target a recognized pathophysiologic pathway (apoptosis and inflammation) in a mouse model of merosin-deficient MDC1A. Using approved drugs for novel indications in neuromuscular disorders may accelerate the translational process significantly (but obviously also must take into account each drug's toxic profile)
-
Girgenrath M, Beermann ML, Vishnudas VK, et al.: Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy. Ann Neurol 2009, 65:47-56. This study used already-approved drugs (minocycline and doxycycline) to target a recognized pathophysiologic pathway (apoptosis and inflammation) in a mouse model of merosin-deficient MDC1A. Using approved drugs for novel indications in neuromuscular disorders may accelerate the translational process significantly (but obviously also must take into account each drug's toxic profile).
-
(2009)
Ann Neurol
, vol.65
, pp. 47-56
-
-
Girgenrath, M.1
Beermann, M.L.2
Vishnudas, V.K.3
-
37
-
-
0032991133
-
Transforming growth factor-beta1 and fibrosis in congenital muscular dystrophies
-
Bernasconi P, Di Blasi C, Mora M, et al.: Transforming growth factor-beta1 and fibrosis in congenital muscular dystrophies. Neuromuscul Disord 1999, 9:28-33.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 28-33
-
-
Bernasconi, P.1
Di Blasi, C.2
Mora, M.3
-
38
-
-
33846946114
-
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
-
Cohn RD, Van Erp C, Habashi JP, et al.: Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007, 13:204-210.
-
(2007)
Nat Med
, vol.13
, pp. 204-210
-
-
Cohn, R.D.1
Van Erp, C.2
Habashi, J.P.3
-
39
-
-
77953540216
-
Treatment approaches in laminin- α2-deficient congenital muscular dystrophy (MDC1A)
-
EM.P.541.504
-
Meinen S, Lin S, Ruegg MA: Treatment approaches in laminin- α2-deficient congenital muscular dystrophy (MDC1A). Neuromuscul Disord 2009, 19:543 EM.P.541.504.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 543
-
-
Meinen, S.1
Lin, S.2
Ruegg, M.A.3
-
40
-
-
0035921981
-
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
-
Moll J, Barzaghi P, Lin S, et al.: An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001, 413:302-307.
-
(2001)
Nature
, vol.413
, pp. 302-307
-
-
Moll, J.1
Barzaghi, P.2
Lin, S.3
-
41
-
-
4444354572
-
Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice
-
Gawlik K, Miyagoe-Suzuki Y, Ekblom P, et al.: Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice. Hum Mol Genet 2004, 13:1775-1784.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1775-1784
-
-
Gawlik, K.1
Miyagoe-Suzuki, Y.2
Ekblom, P.3
-
42
-
-
33746696646
-
Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy
-
Hagiwara H, Ohsawa Y, Asakura S, et al.: Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy. FEBS Lett 2006, 580:4463-4468.
-
(2006)
FEBS Lett
, vol.580
, pp. 4463-4468
-
-
Hagiwara, H.1
Ohsawa, Y.2
Asakura, S.3
-
43
-
-
36549013715
-
CD90-positive cells, an additional cell population, produce laminin alpha2 upon transplantation to dy(3k)/dy(3k) mice
-
Fukada S, Yamamoto Y, Segawa M, et al.: CD90-positive cells, an additional cell population, produce laminin alpha2 upon transplantation to dy(3k)/dy(3k) mice. Exper Cell Res 2008, 314:193-203.
-
(2008)
Exper Cell Res
, vol.314
, pp. 193-203
-
-
Fukada, S.1
Yamamoto, Y.2
Segawa, M.3
-
44
-
-
24944559356
-
Collagen VI related muscle disorders
-
Lampe AK, Bushby KM: Collagen VI related muscle disorders. J Med Genet 2005, 42:673-685.
-
(2005)
J Med Genet
, vol.42
, pp. 673-685
-
-
Lampe, A.K.1
Bushby, K.M.2
-
45
-
-
34447291815
-
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis
-
Petrini S, D'Amico A, Sale P, et al.: Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. Neuromuscul Disord 2007, 17:587-596.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 587-596
-
-
Petrini, S.1
D'Amico, A.2
Sale, P.3
-
46
-
-
44849095580
-
Three novel collagen VI chains with high homology to the alpha3 chain
-
Gara SK, Grumati P, Urciuolo A, et al.: Three novel collagen VI chains with high homology to the alpha3 chain. J Biol Chem 2008, 283:10658-10670.
-
(2008)
J Biol Chem
, vol.283
, pp. 10658-10670
-
-
Gara, S.K.1
Grumati, P.2
Urciuolo, A.3
-
47
-
-
50649101286
-
Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)
-
Fitzgerald J, Rich C, Zhou FH, Hansen U: Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI). J Biol Chem 2008, 283:20170-20180.
-
(2008)
J Biol Chem
, vol.283
, pp. 20170-20180
-
-
Fitzgerald, J.1
Rich, C.2
Zhou, F.H.3
Hansen, U.4
-
48
-
-
34548436040
-
Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease
-
Kawahara G, Okada M, Morone N, et al.: Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. Neurology 2007, 69:1043-1049.
-
(2007)
Neurology
, vol.69
, pp. 1043-1049
-
-
Kawahara, G.1
Okada, M.2
Morone, N.3
-
49
-
-
51349109654
-
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
-
Kawahara G, Ogawa M, Okada M, et al.: Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes. Muscle Nerve 2008, 38:1192-1195.
-
(2008)
Muscle Nerve
, vol.38
, pp. 1192-1195
-
-
Kawahara, G.1
Ogawa, M.2
Okada, M.3
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50
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10744233522
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Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
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Irwin WA, Bergamin N, Sabatelli P, et al.: Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet 2003, 35:367-371.
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(2003)
Nat Genet
, vol.35
, pp. 367-371
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Irwin, W.A.1
Bergamin, N.2
Sabatelli, P.3
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51
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33846477445
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Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
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This study demonstrated that mitochondrial PTP dysfunction also occurs in human cells derived from patients with collagen VI-deficient CMD and that this dysfunction can be blocked successfully pharmaceutically
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Angelin A, Tiepolo T, Sabatelli P, et al.: Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A 2007, 104:991-996. This study demonstrated that mitochondrial PTP dysfunction also occurs in human cells derived from patients with collagen VI-deficient CMD and that this dysfunction can be blocked successfully pharmaceutically.
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(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 991-996
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Angelin, A.1
Tiepolo, T.2
Sabatelli, P.3
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52
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58849108906
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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue
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Hicks D, Lampe AK, Laval SH, et al.: Cyclosporine A treatment for Ullrich congenital muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue. Brain 2009, 132:147-155.
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(2009)
Brain
, vol.132
, pp. 147-155
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Hicks, D.1
Lampe, A.K.2
Laval, S.H.3
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53
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42449109035
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Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
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Merlini L, Angelin A, Tiepolo T, et al.: Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A 2008, 105:5225-5229.
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(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 5225-5229
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Merlini, L.1
Angelin, A.2
Tiepolo, T.3
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54
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10244236553
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The nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria
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Hansson MJ, Mattiasson G, Mansson R, et al.: The nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria. J Bioenerg Biomembr 2004, 36:407-413.
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(2004)
J Bioenerg Biomembr
, vol.36
, pp. 407-413
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Hansson, M.J.1
Mattiasson, G.2
Mansson, R.3
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55
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65549104874
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The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice
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This study in collagen VI- deficient mice provided evidence that the cyclophilin D inhibitor Debio 025 counteracts the mitochondrially mediated apoptosis seen in these animals and therefore is a candidate for clinical studies in collagen VI-deficient CMDs. Debio 025 already is in clinical trials in patients with hepatitis C
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Tiepolo T, Angelin A, Palma E, et al.: The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice. Br J Pharmacol 2009, 157:1045-1052. This study in collagen VI- deficient mice provided evidence that the cyclophilin D inhibitor Debio 025 counteracts the mitochondrially mediated apoptosis seen in these animals and therefore is a candidate for clinical studies in collagen VI-deficient CMDs. Debio 025 already is in clinical trials in patients with hepatitis C.
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(2009)
Br J Pharmacol
, vol.157
, pp. 1045-1052
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Tiepolo, T.1
Angelin, A.2
Palma, E.3
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56
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65549087972
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Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice
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Palma E, Tiepolo T, Angelin A, et al.: Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. Hum Mol Genet 2009, 18:2024-2031.
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(2009)
Hum Mol Genet
, vol.18
, pp. 2024-2031
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Palma, E.1
Tiepolo, T.2
Angelin, A.3
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57
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40949117600
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The cyclophilin inhibitor Debio-025 shows potent anti-hepatitis C effect in patients coinfected with hepatitis C and human immunodeficiency virus
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Flisiak R, Horban A, Gallay P, et al.: The cyclophilin inhibitor Debio-025 shows potent anti-hepatitis C effect in patients coinfected with hepatitis C and human immunodeficiency virus. Hepatology 2008, 47:817-826.
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(2008)
Hepatology
, vol.47
, pp. 817-826
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Flisiak, R.1
Horban, A.2
Gallay, P.3
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58
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42949160078
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Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: Implications for congenital muscular dystrophy types Ullrich and Bethlem
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Zou Y, Zhang RZ, Sabatelli P, et al.: Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: Implications for congenital muscular dystrophy types Ullrich and Bethlem. J Neuropathol Exp Neurol 2008, 67:144-154.
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(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 144-154
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Zou, Y.1
Zhang, R.Z.2
Sabatelli, P.3
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60
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33845784175
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Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo
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Deniziak M, Thisse C, Rederstorff M, et al.: Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo. Exper Cell Res 2007, 313:156-167.
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(2007)
Exper Cell Res
, vol.313
, pp. 156-167
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Deniziak, M.1
Thisse, C.2
Rederstorff, M.3
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61
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67650066807
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Oxidative stress in SEPN1-related myopathy: From pathophysiology to treatment
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This study demonstrated that the SEPN1 mutations lead to abnormal redox pathways as well as to abnormal RYR1-mediated calcium modulation in patient-derived cultures and that these abnormalities improve with application of the approved drug NAC, thus opening the perspective of a clinical trial of NAC in this myopathy, as the toxic profile of this drug is favorable
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Arbogast S, Beuvin M, Fraysse B, et al.: Oxidative stress in SEPN1-related myopathy: From pathophysiology to treatment. Ann Neurol 2009, 65:677-686. This study demonstrated that the SEPN1 mutations lead to abnormal redox pathways as well as to abnormal RYR1-mediated calcium modulation in patient-derived cultures and that these abnormalities improve with application of the approved drug NAC, thus opening the perspective of a clinical trial of NAC in this myopathy, as the toxic profile of this drug is favorable.
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(2009)
Ann Neurol
, vol.65
, pp. 677-686
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Arbogast, S.1
Beuvin, M.2
Fraysse, B.3
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62
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33751275013
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Redox regulation of the ryanodine receptor/calcium release channel
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Zissimopoulos S, Lai FA: Redox regulation of the ryanodine receptor/calcium release channel. Biochem Soc Trans 2006, 34:919-921.
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(2006)
Biochem Soc Trans
, vol.34
, pp. 919-921
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Zissimopoulos, S.1
Lai, F.A.2
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63
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0036260805
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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
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Ferreiro A, Monnier N, Romero NB, et al.: A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol 2002, 51:750-759.
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(2002)
Ann Neurol
, vol.51
, pp. 750-759
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Ferreiro, A.1
Monnier, N.2
Romero, N.B.3
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