-
2
-
-
2342461060
-
Myotonic dystrophy: RNA pathogenesis comes into focus
-
Ranum LP, Day JW: Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 2004, 74:793-804
-
(2004)
Am J Hum Genet
, vol.74
, pp. 793-804
-
-
Ranum, L.P.1
Day, J.W.2
-
3
-
-
0026567370
-
Cloning of essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, Tsilfidis C, Clen C, Alleman J, Wormskamp NG, Vooijs M, Buxton J, Johnson K, Sweets HLM, Lennon GG, Carrano AV, Korneluk RG, Wieringa B, deJong PJ: Cloning of essential myotonic dystrophy region and mapping of the putative defect. Nature 1992, 355:548-551
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
Shutler, G.4
Mahadevan, M.5
Tsilfidis, C.6
Clen, C.7
Alleman, J.8
Wormskamp, N.G.9
Vooijs, M.10
Buxton, J.11
Johnson, K.12
Sweets, H.L.M.13
Lennon, G.G.14
Carrano, A.V.15
Korneluk, R.G.16
Wieringa, B.17
deJong, P.J.18
-
4
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron of ZNF9
-
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum L: Myotonic dystrophy type 2 caused by a CCTG expansion in intron of ZNF9. Science 2001, 293:864-867
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
Day, J.W.7
Ranum, L.8
-
5
-
-
0037465516
-
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
-
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison, Dalton JC, Ranum LP: Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurol 2003, 60:657-664
-
(2003)
Neurol
, vol.60
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
Rasmussen, L.J.4
Dick, K.A.5
Kress, W.6
Schneider, C.7
Koch, M.C.8
Beilman, G.J.9
Harrison10
Dalton, J.C.11
Ranum, L.P.12
-
6
-
-
0028940741
-
Myotonic Dystrophy: Evidence for a possible dominant-negative RNA mutation
-
Wang J, Pegoraro E, Menegazo E, Gennarelli M, Hoop RC, Angelini C, Hoffman EP: Myotonic Dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet 1995, 4:599-606
-
(1995)
Hum Mol Genet
, vol.4
, pp. 599-606
-
-
Wang, J.1
Pegoraro, E.2
Menegazo, E.3
Gennarelli, M.4
Hoop, R.C.5
Angelini, C.6
Hoffman, E.P.7
-
7
-
-
0034622926
-
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
-
Mankodi M, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA: Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000, 289:1769-1772
-
(2000)
Science
, vol.289
, pp. 1769-1772
-
-
Mankodi, M.1
Logigian, E.2
Callahan, L.3
McClain, C.4
White, R.5
Henderson, D.6
Krym, M.7
Thornton, C.A.8
-
8
-
-
0035510133
-
Mice transgenic for the human myotonic dystrophy with expanded CTG repeats display muscular and brain abnormalities
-
Seznec H, Agbulut O, Sergeant N, Savouret C, Ghestem A, Tabti N, Willer JC, Ourth L, Duros E, Brisson E, Fouquet C, Butler-Browne G, Delacourte A, Junien C, Gourdon G: Mice transgenic for the human myotonic dystrophy with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet 2001, 10:2717-2726
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2717-2726
-
-
Seznec, H.1
Agbulut, O.2
Sergeant, N.3
Savouret, C.4
Ghestem, A.5
Tabti, N.6
Willer, J.C.7
Ourth, L.8
Duros, E.9
Brisson, E.10
Fouquet, C.11
Butler-Browne, G.12
Delacourte, A.13
Junien, C.14
Gourdon, G.15
-
9
-
-
33748311991
-
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy
-
Mahadevan MS, Yadava RS, Yu Q, Balijepalli S, Frenxel-McCardell CD, Bourne TD, Phillips LH: Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet 2006, 38:1066-1070
-
(2006)
Nat Genet
, vol.38
, pp. 1066-1070
-
-
Mahadevan, M.S.1
Yadava, R.S.2
Yu, Q.3
Balijepalli, S.4
Frenxel-McCardell, C.D.5
Bourne, T.D.6
Phillips, L.H.7
-
10
-
-
0030043709
-
Novel proteins with binding specificity to DNA CTG and RNA CUG repeats: Implications for myotonic dystrophy
-
Timchenko LT, Timchenko NA, Caskey CT, Roberts R: Novel proteins with binding specificity to DNA CTG and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet 1996, 5:115-121
-
(1996)
Hum Mol Genet
, vol.5
, pp. 115-121
-
-
Timchenko, L.T.1
Timchenko, N.A.2
Caskey, C.T.3
Roberts, R.4
-
11
-
-
0029919450
-
Identification of a (CUG)n triplet repeat binding protein and its expression in myotonic dystrophy
-
Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, Roberts R, Caskey CT, Swanson MS: Identification of a (CUG)n triplet repeat binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 1996, 24:4407-4414
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 4407-4414
-
-
Timchenko, L.T.1
Miller, J.W.2
Timchenko, N.A.3
DeVore, D.R.4
Datar, K.V.5
Lin, L.6
Roberts, R.7
Caskey, C.T.8
Swanson, M.S.9
-
12
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
-
Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS: Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy. EMBO J 2000, 19:4439-4448
-
(2000)
EMBO J
, vol.19
, pp. 4439-4448
-
-
Miller, J.W.1
Urbinati, C.R.2
Teng-Umnuay, P.3
Stenberg, M.G.4
Byrne, B.J.5
Thornton, C.A.6
Swanson, M.S.7
-
13
-
-
1842529234
-
Overexpression of CUG triplet repeat-binding protein. CUGBP1, in mice inhibits myogenesis
-
Timchenko NA, Patel R, Iakova P, Cai Z-J, Quan L, Timchenko LT: Overexpression of CUG triplet repeat-binding protein. CUGBP1, in mice inhibits myogenesis J Biol Chem 2004, 279:13129-13139
-
(2004)
J Biol Chem
, vol.279
, pp. 13129-13139
-
-
Timchenko, N.A.1
Patel, R.2
Iakova, P.3
Cai, Z.-J.4
Quan, L.5
Timchenko, L.T.6
-
14
-
-
20444452898
-
Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
-
Ho THH, Bundman D, Armstong DL, Cooper TA: Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet 2005, 14:1539-1547
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1539-1547
-
-
Ho, T.H.H.1
Bundman, D.2
Armstong, D.L.3
Cooper, T.A.4
-
15
-
-
0346243804
-
A muscleblind knockout model for myotonic dystrophy
-
Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS: A muscleblind knockout model for myotonic dystrophy. Science 2003, 302:1978-1980
-
(2003)
Science
, vol.302
, pp. 1978-1980
-
-
Kanadia, R.N.1
Johnstone, K.A.2
Mankodi, A.3
Lungu, C.4
Thornton, C.A.5
Esson, D.6
Timmers, A.M.7
Hauswirth, W.W.8
Swanson, M.S.9
-
16
-
-
0034806973
-
Molecular basis for impaired muscle differentiation in myotonic dystrophy
-
Timchenko NA, Iakova P, Cai Z-J, Smith JR, Timchenko LT: Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol Cell Biol 2001, 21:6927-6938
-
(2001)
Mol Cell Biol
, vol.21
, pp. 6927-6938
-
-
Timchenko, N.A.1
Iakova, P.2
Cai, Z.-J.3
Smith, J.R.4
Timchenko, L.T.5
-
17
-
-
33845922855
-
Age-specific CUGBP1-eIF2 complex increases translation of C/EBPβ in old liver
-
Timchenko LT, Salisbury E, Wang G-L, Nguen H, Hershey JWB, Timchenko NA: Age-specific CUGBP1-eIF2 complex increases translation of C/EBPβ in old liver. J Biol Chem 2006, 281:32806-32819
-
(2006)
J Biol Chem
, vol.281
, pp. 32806-32819
-
-
Timchenko, L.T.1
Salisbury, E.2
Wang, G.-L.3
Nguen, H.4
Hershey, J.W.B.5
Timchenko, N.A.6
-
18
-
-
44949120812
-
Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein. CUGBP1
-
Salisbury E, Sakai K, Schoser B, Huichalaf C, Schnider-Gold C, Nguen H, Wang G-L, Albrech JH, Timchenko LT: Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein. CUGBP1 Exp Cell Res 2008, 314:2266-2278
-
(2008)
Exp Cell Res
, vol.314
, pp. 2266-2278
-
-
Salisbury, E.1
Sakai, K.2
Schoser, B.3
Huichalaf, C.4
Schnider-Gold, C.5
Nguen, H.6
Wang, G.-L.7
Albrech, J.H.8
Timchenko, L.T.9
-
19
-
-
0032076126
-
Disruption of splicing regulated by CUG-binding protein in myotonic dystrophy
-
Philips AV, Timchenko LT, Cooper TA: Disruption of splicing regulated by CUG-binding protein in myotonic dystrophy. Science 1998, 280:737-741
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
20
-
-
0036347927
-
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
-
Charlet-BN, Savcur RS, Singh G, Philips AV, Grice EA, Cooper TA: Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002, 10:43-45
-
(2002)
Mol Cell
, vol.10
, pp. 43-45
-
-
BN, C.1
Savcur, R.S.2
Singh, G.3
Philips, A.V.4
Grice, E.A.5
Cooper, T.A.6
-
21
-
-
33744980908
-
Mammalian CELF/ Bruno-like RNA-binding proteins: Molecular characteristics and biological functions
-
Barreau C, Paillard L, Mereau A, Osborne BH: Mammalian CELF/ Bruno-like RNA-binding proteins: molecular characteristics and biological functions. Biochimie 2005, 88:515-525
-
(2005)
Biochimie
, vol.88
, pp. 515-525
-
-
Barreau, C.1
Paillard, L.2
Mereau, A.3
Osborne, B.H.4
-
22
-
-
33745248133
-
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
-
Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA: Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 2006, 15:2087-2097
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2087-2097
-
-
Lin, X.1
Miller, J.W.2
Mankodi, A.3
Kanadia, R.N.4
Yuan, Y.5
Moxley, R.T.6
Swanson, M.S.7
Thornton, C.A.8
-
23
-
-
0029746150
-
In vitro synthesis and cloning of long CAG repeats
-
Ordway JM, Detloff PJ: In vitro synthesis and cloning of long CAG repeats. BioTechniques 1996, 21:609-610
-
(1996)
BioTechniques
, vol.21
, pp. 609-610
-
-
Ordway, J.M.1
Detloff, P.J.2
-
24
-
-
0037040541
-
Molecular chaperones in the cytosol: From nascent chain to folded protein
-
Hartl FU, Hayer-Hartl M: Molecular chaperones in the cytosol: from nascent chain to folded protein. Science 2002, 295:1852-1858
-
(2002)
Science
, vol.295
, pp. 1852-1858
-
-
Hartl, F.U.1
Hayer-Hartl, M.2
-
25
-
-
0346727127
-
Protein degradation and protection against misfolded or damaged proteins
-
Goldberg AL: Protein degradation and protection against misfolded or damaged proteins. Nature 2003, 426:895-899
-
(2003)
Nature
, vol.426
, pp. 895-899
-
-
Goldberg, A.L.1
-
26
-
-
0033869876
-
Translational control of C/EBPα and C/EBPβ isoform expression
-
Calkhoven CF, Muller C, Leutz A: Translational control of C/EBPα and C/EBPβ isoform expression. Genes Dev 2000, 14:1920-1932
-
(2000)
Genes Dev
, vol.14
, pp. 1920-1932
-
-
Calkhoven, C.F.1
Muller, C.2
Leutz, A.3
-
27
-
-
25844487226
-
Diseases of unstable repeat expansions: Mechanisms and common principles
-
Gatchel JR, Zoghbi HY: Diseases of unstable repeat expansions: mechanisms and common principles. Nat Rev Genet 2005, 10:743-755
-
(2005)
Nat Rev Genet
, vol.10
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
28
-
-
0038025990
-
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions: Implications for the cerebellar tremor/ataxia syndrome
-
Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen L-A, Nieuwenhuizen IM, Schrier M, van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA: The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions: implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet 2003, 12:949-959
-
(2003)
Hum Mol Genet
, vol.12
, pp. 949-959
-
-
Willemsen, R.1
Hoogeveen-Westerveld, M.2
Reis, S.3
Holstege, J.4
Severijnen, L.-A.5
Nieuwenhuizen, I.M.6
Schrier, M.7
van Unen, L.8
Tassone, F.9
Hoogeveen, A.T.10
Hagerman, P.J.11
Mientjes, E.J.12
Oostra, B.A.13
-
29
-
-
33744762160
-
DM2 intronic expansions: Evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
-
Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LPW: DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Hum Mol Genet 2006, 15:1808-1815
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1808-1815
-
-
Margolis, J.M.1
Schoser, B.G.2
Moseley, M.L.3
Day, J.W.4
Ranum, L.P.W.5
|