Myotonic Dystrophy
Tài liệu tham khảo
Alwazzan, 1999, Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat, Hum. Mol. Genet., 8, 1491, 10.1093/hmg/8.8.1491
Amack, 1999, Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model, Hum. Mol. Genet., 8, 1975, 10.1093/hmg/8.11.1975
Barbaux, 1997, Donor splice-site mutations in WT1 are responsible for Frasier syndrome, Nat. Genet., 17, 467, 10.1038/ng1297-467
Berul, 1999, DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model, J. Clin. Invest., 103, R1, 10.1172/JCI5346
Bhagwati, 1996, Identification of two nuclear proteins which bind to RNA CUG repeats, Biochem. Biophys. Res. Commun., 228, 55, 10.1006/bbrc.1996.1615
Brook, 1992, Molecular basis of myotonic dystrophy, Cell, 69, 385
Bush, 1996, Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype, J. Biol. Chem., 271, 548, 10.1074/jbc.271.1.548
Carango, 1993, Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy, Genomics, 18, 340, 10.1006/geno.1993.1474
Caskey, 1996, Myotonic dystrophy, Cold Spring Harb. Symp. Quant. Biol., 61, 607, 10.1101/SQB.1996.061.01.061
Choi, 1984, Monoclonal antibody characterization of the C proteins of heterogeneous nuclear ribonucleoprotein complexes in vertebrate cells, J. Cell Biol., 99, 1997, 10.1083/jcb.99.6.1997
Choi, 1986, Heterogeneous nuclear ribonucleoproteins, Science, 231, 1534, 10.1126/science.3952495
Davis, 1997, Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts, Proc. Natl. Acad. Sci. USA, 94, 7388, 10.1073/pnas.94.14.7388
Dunne, 1994, Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition, Biochemistry, 33, 10809, 10.1021/bi00201a031
Dunne, 1996, Myotonic protein kinase expression in human and bovine lenses, Biochem. Biophys. Res. Commun., 225, 281, 10.1006/bbrc.1996.1167
Dunne, 1996, Localization of myotonic dystrophy protein kinase in skeletal muscle and its alteration with disease, Cell Motil. Cytoskeleton, 33, 52, 10.1002/(SICI)1097-0169(1996)33:1<52::AID-CM6>3.0.CO;2-K
Fu, 1992, An unstable triplet repeat in a gene related to myotonic muscular dystrophy, Science, 255, 1256, 10.1126/science.1546326
Fu, 1993, Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy, Science, 260, 235, 10.1126/science.8469976
Garcia-Blanco, 1989, Identification and purification of a 62,000-dalton protein that binds specifically to the polypyrimidine tract of introns, Genes Dev., 3, 1874, 10.1101/gad.3.12a.1874
Gooding, 1998, Role of an inhibitory pyrimidine element and polypyrimidine tract binding protein in repression of a regulated alpha-tropomyosin exon, RNA, 4, 85
Groenen, 1998, Expanding complexity in myotonic dystrophy, Bioessays, 20, 901, 10.1002/(SICI)1521-1878(199811)20:11<901::AID-BIES5>3.0.CO;2-0
Hamshere, 1997, Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes, Proc. Natl. Acad. Sci. USA, 94, 7394, 10.1073/pnas.94.14.7394
Harper, 1989
Hofmann-Radvanyi, 1993, Myotonic dystrophy, Hum. Mol. Genet., 2, 1263, 10.1093/hmg/2.8.1263
Hunter, 1992, The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy, J. Med. Genet., 29, 774, 10.1136/jmg.29.11.774
Jansen, 1992, Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs, Nat. Genet., 1, 261, 10.1038/ng0792-261
Jansen, 1996, Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice, Nat. Genet., 13, 316, 10.1038/ng0796-316
Jin, 2000, Myotonic dystrophy protein kinase (DMPK) induces actin cytoskeletal reorganization and apoptotic-like blebbing in lens cells, Cell Motil. Cytoskeleton, 45, 133, 10.1002/(SICI)1097-0169(200002)45:2<133::AID-CM5>3.0.CO;2-S
Kamma, 1995, Cell type-specific expression of hnRNP proteins, Exp. Cell Res., 221, 187, 10.1006/excr.1995.1366
Klamt, 1998, Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/−KTS splice isoforms, Hum. Mol. Genet., 7, 709, 10.1093/hmg/7.4.709
Krahe, 1995, Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing, Genomics, 28, 1, 10.1006/geno.1995.1099
Liscum, 1985, Domain structure of 3-hydroxy-3-methylglutaryl coenzyme A reductase, a glycoprotein of the endoplasmic reticulum, J. Biol. Chem., 260, 522, 10.1016/S0021-9258(18)89764-2
Lou, 1999, Polypyrimidine tract-binding protein positively regulates inclusion of an alternative 3′-terminal exon, Mol. Cell. Biol., 19, 78, 10.1128/MCB.19.1.78
Maeda, 1995, Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein, J. Biol. Chem., 270, 20246, 10.1074/jbc.270.35.20246
Mahadevan, 1992, Myotonic dystrophy mutation, Science, 255, 1253, 10.1126/science.1546325
Masaki, 1996, Membrane topology and retention of microsomal aldehyde dehydrogenase in the endoplasmic reticulum, J. Biol. Chem., 271, 16939, 10.1074/jbc.271.28.16939
Morrone, 1997, RNA metabolism in myotonic dystrophy, J. Clin. Invest., 99, 1691, 10.1172/JCI119332
Mounsey, 1995, Modulation of skeletal muscle sodium channels by human myotonin protein kinase, J. Clin. Invest., 95, 2379, 10.1172/JCI117931
Patton, 1993, Cloning and characterization of PSF, a novel pre-mRNA splicing factor, Genes Dev., 7, 393, 10.1101/gad.7.3.393
Philips, 1998, Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy, Science, 280, 737, 10.1126/science.280.5364.737
Reddy, 1996, Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy, Nat. Genet., 13, 325, 10.1038/ng0796-325
Redman, 1993, Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring, JAMA, 269, 1960, 10.1001/jama.1993.03500150072029
Roberts, 1997, Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice, Proc. Natl. Acad. Sci. USA, 94, 13221, 10.1073/pnas.94.24.13221
Sabourin, 1993, Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene, Nat. Genet., 4, 233, 10.1038/ng0793-233
Saitoh, 1996, Immunocytochemical localization of a full-length myotonin protein kinase in rat L6 myoblasts, Neurosci. Lett., 218, 214, 10.1016/S0304-3940(96)13154-2
Sarnat, 1976, Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases, Arch. Neurol., 33, 466, 10.1001/archneur.1976.00500070008002
Swanson, 1988, RNA binding specificity of hnRNP proteins, EMBO J., 7, 3519, 10.1002/j.1460-2075.1988.tb03228.x
Taneja, 1995, Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues, J. Cell Biol., 128, 995, 10.1083/jcb.128.6.995
Timchenko, 1996, Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy, Nucleic Acids Res., 24, 4407, 10.1093/nar/24.22.4407
Timchenko, 1996, Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats, Hum. Mol. Genet., 5, 115, 10.1093/hmg/5.1.115
Tsilfidis, 1992, Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy, Nat. Genet., 1, 192, 10.1038/ng0692-192
van der Ven, 1993, Myotonic dystrophy kinase is a component of neuromuscular junctions, Hum. Mol. Genet., 2, 1889, 10.1093/hmg/2.11.1889
Wang, 1995, Myotonic dystrophy, Hum. Mol. Genet., 4, 599, 10.1093/hmg/4.4.599
Waring, 1996, Investigation of myotonic dystrophy kinase isoform translocation and membrane association, J. Biol. Chem., 271, 15187, 10.1074/jbc.271.25.15187
Zamore, 1989, Identification, purification, and biochemical characterization of U2 small nuclear ribonucleoprotein auxiliary factor, Proc. Natl. Acad. Sci. USA, 86, 9243, 10.1073/pnas.86.23.9243
Zhang, 1999, Coordinate repression of a trio of neuron-specific splicing events by the splicing regulator PTB, RNA, 5, 117, 10.1017/S1355838299981530