Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells

Human Molecular Genetics

Volumn 11, Issue 7, 2002, Pages 805-814

  Fardaei, Majid ^a   Rogers, Mark T ^b   Thorpe, Helena M ^a   Larkin, Kenneth ^a   Hamshere, Marion G ^a   Harper, Peter S ^b   Brook, J David ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; DNA; GREEN FLUORESCENT PROTEIN; GUANINE; PROTEIN ANTIBODY; THYMINE; ZINC FINGER PROTEIN;

3' UNTRANSLATED REGION; ALTERNATIVE RNA SPLICING; ARTICLE; CELL NUCLEUS; CHROMOSOME 13; CHROMOSOME 3; CONTROLLED STUDY; DROSOPHILA; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; IN VIVO STUDY; INTRON; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASE; PATHOPHYSIOLOGY; PLACENTA; PRIORITY JOURNAL; PROTEIN LOCALIZATION; TRINUCLEOTIDE REPEAT; X CHROMOSOME;

DROSOPHILA;

EID: 0036537492     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.7.805     Document Type: Article

References (43)

1. Cloning of the essential myotonic dystrophy region and mapping of the putative defect
2. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
3. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
4. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
5. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
6. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
7. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
8. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
9. Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
10. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
11. Perspectives: Reconstructing myotonic dystrophy
12. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
13. Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: Implications for myoconic dystrophy
14. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
15. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
16. Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein
17. In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
18. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
19. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
20. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
21. Muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins
22. CLUSTAL: A package for performing multiple sequence alignment on a microcomputer
23. The neighbor-joining method: A new method for reconstructing phylogenetic trees
24. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
25. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
26. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
27. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
28. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
29. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat
30. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
31. Mice deficient in Six5 develop cataracts: Implications for myotonic dystrophy
32. Myotonic dystrophy: Evidence for a possible dominant-negative RNA mutation
33. Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities
34. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy
35. Clinical and genetic heterogeneity in myotonic dystrophies
36. Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
37. Proximal myotonic myopathy: Evidence for anticipation in families with linkage to chromosome 3q
38. PROMM: The expanding phenotype. A family with proximal myopathy, myotonia and deafness
39. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
40. The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2
41. Myotonia dystrophica with heart involvement: An electron microscopic study of skeletal, cardiac, and smooth muscle
42. Basic local alignment search tool