Myotonic dystrophy: The role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios

Molecular Cell

Volumn 5, Issue 6, 2000, Pages 959-967

  Tiscornia, Gustavo ^a   Mahadevan, Mani S ^a  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; MESSENGER RNA; PROTEIN KINASE;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; ASSOCIATION; DINUCLEOTIDE REPEAT; EXON; GENE EXPRESSION; GENE MUTATION; HEREDITY; MOUSE; MYOTONIC DYSTROPHY; NONHUMAN; PROTEIN BINDING; RNA SPLICING;

ANIMALIA;

EID: 0033638394     PISSN: 10972765     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1097-2765(00)80261-0     Document Type: Article

References (55)

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2. Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model
3. Donor splice-site mutations in WT1 are responsible for Frasier syndrome
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13. Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition
14. Myotonic protein kinase expression in human and bovine lenses
15. Localization of myotonic dystrophy protein kinase in skeletal muscle and its alteration with disease
16. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
17. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
18. Identification and purification of a 62,000-dalton protein that binds specifically to the polypyrimidine tract of introns
19. Role of an inhibitory pyrimidine element and polypyrimidine tract binding protein in repression of a regulated alpha-tropomyosin exon
20. Expanding complexity in myotonic dystrophy
21. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
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24. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs
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27. Cell type-specific expression of hnRNP proteins
28. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ration of WT1 +/- KTS splice isoforms
29. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing
30. Domain structure of 3-hydroxy-3-methyl-glutaryl coenzyme A reductase, a glycoprotein of the endoplasmic reticulum
31. Polypyrimidine tract-binding protein positively regulates inclusion of an alternative 3'-terminal exon
32. Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein
33. Myotonic dystrophy mutation: An unstable CTG repeat in the 3' untranslated region of the gene
34. Membrane topology and retention of microsomal aldehyde dehydrogenase in the endoplasmic reticulum
35. RNA metabolism in myotonic dystrophy: Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance
36. Modulation of skeletal muscle sodium channels by human myotonin protein kinase
37. Cloning and characterization of PSF, a novel pre-mRNA splicing factor
38. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
39. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
40. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring
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42. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene
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45. RNA binding specificity of hnRNP proteins: A subset bind to the 3' end of introns
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52. Investigation of myotonic dystrophy kinase isoform translocation and membrane association
53. Identification, purification, and biochemical characterization of U2 small nuclear ribonucleoprotein auxiliary factor
54. Coordinate repression of a trio of neuron-specific splicing events by the splicing regulator PTB