Myotonic dystrophy - A multigene disorder

Brain Research Bulletin

Volumn 56, Issue 3-4, 2001, Pages 389-395

  Larkin, Ken ^a   Fardaei, Majid ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

CUG triplet repeat; DMPK; DMWD; EXP; Field effect; Myotonic dystrophy; SIX5

Indexed keywords

ANDROGEN RECEPTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; POLYGLUTAMINE; PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE; RNA BINDING PROTEIN;

ALLELE; CONFERENCE PAPER; DNA METHYLATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; HUMAN; MYOTONIC DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

HOMEODOMAIN PROTEINS; HUMANS; MYOTONIC DYSTROPHY; PROTEIN-SERINE-THREONINE KINASES; TRINUCLEOTIDE REPEATS;

EID: 0035503521     PISSN: 03619230     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0361-9230(01)00656-6     Document Type: Conference Paper

References (63)

1. Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat
2. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat
3. Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model
4. Cloning of the essential myotonic dystrophy region and mapping of the putative defect
5. Muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins
6. Myotomic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells
7. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
8. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
9. Molecular basis of myotonic dystrophy; Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
10. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
11. Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
12. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
13. Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition
14. Myotonic protein kinase expression in human and bovine lenses
15. A mammalian radial spoke-line gene, RSHL1, at the myotonic dystrophy-1 locus
16. In vivo co-localisation of MBNL with DMPK expanded-repeat transcripts
17. Variation of the CGG repeat at the fragile X site results in genetic instability; Resolution of the Sherman paradox
18. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
19. Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties
20. Myotonic dystrophy, knockouts, warts and all
21. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighbouring genes
22. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
23. Myotonic dystrophy; Will the real gene please step forward!
24. Functional analysis of the homeodomain protein SIX5
25. Myosin light chain phosphatase; Subunit composition, interactions and regulation
26. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs
27. Structural organization and developmental expression pattern of the mouse WD-repeat gene immediately upstream of the myotonic-dystrophy locus
28. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
29. Symplekin, a novel type of tight junction plaque protein
30. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
31. Mice deficient in Six5 develop cataracts; Implications for myotonic dystrophy
32. Myotonic dystrophy; Tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
33. Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart
34. Myotonic dystrophy mutation; An unstable CTG repeat in the 3′ untranslated region of the gene
35. Structure and genomic sequence of the myotonic dystrophy (DM kinase)
36. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
37. Specificity of receptor tyrosine kinase signalling; Transient versus sustained extracellular signal-Regulated kinase activation
38. Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein
39. Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
40. Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity
41. Transport of proteins and RNAs in and out of the nucleus
42. The ancient regulatory-protein family of WD-repeat proteins
43. Cooperation of Six and Eya in activation of their target genes through nuclear translocation of Eya
44. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure
45. Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies
46. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
47. Genetic mapping of a second myotonic dystrophy locus
48. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
49. 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
50. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
51. An expanded CTG trinucleotide repeat causes trans RNA interference; A new hypothesis for the pathogenesis of myotonic dystrophy
52. Genomic organization and transcriptional units at the myotonic dystrophy locus
53. Rac-1 and Raf-1 kinases, components of distinct signalling pathways, activate myotonic dystrophy protein kinase
54. Complex protein interactions within the human polyadenylation machinery identify a novel component
55. The CUG-binding protein binds specifically to UG dinucleotide repeats in a yeast three-hybrid system
56. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
57. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
58. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
59. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene
60. Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements
61. Commentary: Myotonic-dystrophy reviewed; Back to the future?
62. Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy