-
2
-
-
0034622926
-
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
-
Mankodi A, et al. (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289:1769-1773.
-
(2000)
Science
, vol.289
, pp. 1769-1773
-
-
Mankodi, A.1
-
3
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori CL, et al. (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-867.
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
-
4
-
-
2342461060
-
Myotonic dystrophy: RNA pathogenesis comes into focus
-
Ranum LP, Day JW (2004) Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 74:793-804.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 793-804
-
-
Ranum, L.P.1
Day, J.W.2
-
6
-
-
4143120231
-
Muscleblind proteins regulate alternative splicing
-
Ho TH, et al. (2004) Muscleblind proteins regulate alternative splicing. EMBO J 23:3103-3112.
-
(2004)
EMBO J
, vol.23
, pp. 3103-3112
-
-
Ho, T.H.1
-
7
-
-
33745248133
-
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
-
Lin X, et al. (2006) Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 15:2087-2097.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2087-2097
-
-
Lin, X.1
-
9
-
-
33748373580
-
RNA-mediated neuromuscular disorders
-
Ranum LP, Cooper TA (2006) RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29:259-277.
-
(2006)
Annu Rev Neurosci
, vol.29
, pp. 259-277
-
-
Ranum, L.P.1
Cooper, T.A.2
-
10
-
-
14044252328
-
MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
-
Dansithong W, Paul S, Comai L, Reddy S (2005) MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 280:5773-5780.
-
(2005)
J Biol Chem
, vol.280
, pp. 5773-5780
-
-
Dansithong, W.1
Paul, S.2
Comai, L.3
Reddy, S.4
-
11
-
-
0036537492
-
Three proteins, MBNL, MBLL and MBXL, colocalize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
-
Fardaei M, et al. (2002) Three proteins, MBNL, MBLL and MBXL, colocalize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet 11:805-814.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 805-814
-
-
Fardaei, M.1
-
12
-
-
11044233708
-
Myotonic dystrophy type1is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
-
Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA (2004) Myotonic dystrophy type1is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13:3079-3088.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 3079-3088
-
-
Jiang, H.1
Mankodi, A.2
Swanson, M.S.3
Moxley, R.T.4
Thornton, C.A.5
-
13
-
-
0034783271
-
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
-
Mankodi A, et al. (2001) Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 10:2165-2170.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2165-2170
-
-
Mankodi, A.1
-
14
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
-
Miller JW, et al. (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19:4439-4448.
-
(2000)
EMBO J
, vol.19
, pp. 4439-4448
-
-
Miller, J.W.1
-
15
-
-
0346243804
-
A muscleblind knockout model for myotonic dystrophy
-
Kanadia RN, et al. (2003) A muscleblind knockout model for myotonic dystrophy. Science 302:1978-1980.
-
(2003)
Science
, vol.302
, pp. 1978-1980
-
-
Kanadia, R.N.1
-
16
-
-
33746796393
-
Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy
-
Kanadia RN, et al. (2006) Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci USA 103:11748-11753.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 11748-11753
-
-
Kanadia, R.N.1
-
17
-
-
0034873099
-
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
-
Savkur RS, Philips AV, Cooper TA (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 29:40-47.
-
(2001)
Nat Genet
, vol.29
, pp. 40-47
-
-
Savkur, R.S.1
Philips, A.V.2
Cooper, T.A.3
-
18
-
-
1842529234
-
Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis
-
Timchenko NA, et al. (2004) Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J Biol Chem 279:13129-13139.
-
(2004)
J Biol Chem
, vol.279
, pp. 13129-13139
-
-
Timchenko, N.A.1
-
19
-
-
34948872683
-
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy
-
Wang GS, Kearney DL, De Biasi M, Taffet G, Cooper TA (2007) Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest 117:2802-2811.
-
(2007)
J Clin Invest
, vol.117
, pp. 2802-2811
-
-
Wang, G.S.1
Kearney, D.L.2
De Biasi, M.3
Taffet, G.4
Cooper, T.A.5
-
20
-
-
18544385166
-
Temporally controlled targeted somatic mutagenesis in skeletal muscles of the mouse
-
Schuler M, Ali F, Metzger E, Chambon P, Metzger D (2005) Temporally controlled targeted somatic mutagenesis in skeletal muscles of the mouse. Genesis 41:165-170.
-
(2005)
Genesis
, vol.41
, pp. 165-170
-
-
Schuler, M.1
Ali, F.2
Metzger, E.3
Chambon, P.4
Metzger, D.5
-
21
-
-
34247337570
-
Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1
-
Lueck JD, et al. (2007) Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am J Physiol Cell Physiol 292:C1291-1297.
-
(2007)
Am J Physiol Cell Physiol
, vol.292
-
-
Lueck, J.D.1
-
22
-
-
0036347525
-
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
-
Mankodi A, et al. (2002) Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10:35-44.
-
(2002)
Mol Cell
, vol.10
, pp. 35-44
-
-
Mankodi, A.1
-
23
-
-
26444444738
-
2+-ATPase in myotonic dystrophy type 1
-
2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet 14:2189-2200.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2189-2200
-
-
Kimura, T.1
-
24
-
-
20444452898
-
Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
-
Ho TH, Bundman D, Armstrong DL, Cooper TA (2005) Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet 14:1539-1547.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1539-1547
-
-
Ho, T.H.1
Bundman, D.2
Armstrong, D.L.3
Cooper, T.A.4
-
25
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280:737-741.
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
26
-
-
0035896610
-
RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1
-
Timchenko NA, et al. (2001) RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J Biol Chem 276:7820-7826.
-
(2001)
J Biol Chem
, vol.276
, pp. 7820-7826
-
-
Timchenko, N.A.1
-
27
-
-
10044290684
-
Molecular determinants of the structural and functional organization of the sarcoplasmic reticulum
-
Sorrentino V (2004) Molecular determinants of the structural and functional organization of the sarcoplasmic reticulum. Biochim Biophys Acta 1742:113-118.
-
(2004)
Biochim Biophys Acta
, vol.1742
, pp. 113-118
-
-
Sorrentino, V.1
-
28
-
-
0032407540
-
Defining actin filament length in striated muscle: Rulers and caps or dynamic stability?
-
Littlefield R, Fowler VM (1998) Defining actin filament length in striated muscle: Rulers and caps or dynamic stability? Annu Rev Cell Dev Biol 14:487-525.
-
(1998)
Annu Rev Cell Dev Biol
, vol.14
, pp. 487-525
-
-
Littlefield, R.1
Fowler, V.M.2
-
29
-
-
3242659054
-
Fxr1 knockout mice show a striated muscle phenotype: Implications for Fxr1p function in vivo
-
Mientjes EJ, et al. (2004) Fxr1 knockout mice show a striated muscle phenotype: Implications for Fxr1p function in vivo. Hum Mol Genet 13:1291-1302.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1291-1302
-
-
Mientjes, E.J.1
-
30
-
-
0037379663
-
Modelling brain diseases in mice: The challenges of design and analysis
-
Watase K, Zoghbi HY (2003) Modelling brain diseases in mice: The challenges of design and analysis. Nat Rev Genet 4:296-307.
-
(2003)
Nat Rev Genet
, vol.4
, pp. 296-307
-
-
Watase, K.1
Zoghbi, H.Y.2
-
31
-
-
0347914544
-
Myogenic defects in myotonic dystrophy
-
Amack JD, Mahadevan MS (2004) Myogenic defects in myotonic dystrophy. Dev Biol 265:294-301.
-
(2004)
Dev Biol
, vol.265
, pp. 294-301
-
-
Amack, J.D.1
Mahadevan, M.S.2
-
32
-
-
0036347927
-
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
-
Charlet BN, et al. (2002) Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10:45-53.
-
(2002)
Mol Cell
, vol.10
, pp. 45-53
-
-
Charlet, B.N.1
-
33
-
-
0035146628
-
The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
-
Ladd AN, Charlet N, Cooper TA (2001) The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol Cell Biol 21:1285-1296.
-
(2001)
Mol Cell Biol
, vol.21
, pp. 1285-1296
-
-
Ladd, A.N.1
Charlet, N.2
Cooper, T.A.3
-
34
-
-
20444443019
-
Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development
-
Ladd AN, Stenberg MG, Swanson MS, Cooper TA (2005) Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development. Dev Dyn 233:783-793.
-
(2005)
Dev Dyn
, vol.233
, pp. 783-793
-
-
Ladd, A.N.1
Stenberg, M.G.2
Swanson, M.S.3
Cooper, T.A.4
-
35
-
-
33644779759
-
Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1
-
Leroy O, et al. (2006) Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1. Biochim Biophys Acta 1762:460-467.
-
(2006)
Biochim Biophys Acta
, vol.1762
, pp. 460-467
-
-
Leroy, O.1
-
36
-
-
0345526827
-
Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2
-
Mankodi A, et al. (2003) Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 54:760-768.
-
(2003)
Ann Neurol
, vol.54
, pp. 760-768
-
-
Mankodi, A.1
-
37
-
-
0035510133
-
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities
-
Seznec H, et al. (2001) Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet 10:2717-2726.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2717-2726
-
-
Seznec, H.1
-
38
-
-
34247641372
-
CTG trinucleotide repeat "big jumps": Large expansions, small mice
-
Gomes-Pereira M, et al. (2007) CTG trinucleotide repeat "big jumps": Large expansions, small mice. PLoS Genet 3:e52.
-
(2007)
PLoS Genet
, vol.3
-
-
Gomes-Pereira, M.1
-
39
-
-
33748311991
-
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy
-
Mahadevan MS, et al. (2006) Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet 38:1066-1070.
-
(2006)
Nat Genet
, vol.38
, pp. 1066-1070
-
-
Mahadevan, M.S.1
-
40
-
-
33646875518
-
CUG-BP binds to RNA substrates and recruits PARN deadenylase
-
Moraes KC, Wilusz CJ, Wilusz J (2006) CUG-BP binds to RNA substrates and recruits PARN deadenylase. RNA 12:1084-1091.
-
(2006)
RNA
, vol.12
, pp. 1084-1091
-
-
Moraes, K.C.1
Wilusz, C.J.2
Wilusz, J.3
-
41
-
-
0032472377
-
EDEN and EDEN-BP, a cis element and an associated factor that mediate sequence-specific mRNA deadenylation in Xenopus embryos
-
Paillard L, et al. (1998) EDEN and EDEN-BP, a cis element and an associated factor that mediate sequence-specific mRNA deadenylation in Xenopus embryos. EMBO J 17:278-287.
-
(1998)
EMBO J
, vol.17
, pp. 278-287
-
-
Paillard, L.1
-
42
-
-
34948834723
-
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation
-
Kuyumcu-Martinez NM, Wang GS, Cooper TA (2007) Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 28:68-78.
-
(2007)
Mol Cell
, vol.28
, pp. 68-78
-
-
Kuyumcu-Martinez, N.M.1
Wang, G.S.2
Cooper, T.A.3
|