Toward a gene therapy for duchenne muscular dystrophy

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 1, Issue 1, 1995, Pages 71-78

  Dunckley, Matthew G ^a   Piper, Tony A ^a   Dickson, George ^a  

^a UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Duchenne muscular dystrophy; dystrophin; gene therapy; mdx mouse; vector

Indexed keywords

EID: 84989676518     PISSN: 10804013     EISSN: 10982779     Source Type: Journal    
DOI: 10.1002/mrdd.1410010113     Document Type: Article

References (70)

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3. Two forms of mouse syntrophin, a 58 kd dystrophin‐associated protein, differ in primary structure and tissue distribution
4. The structural and functional diversity of dystrophin
5. Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells
6. Eine neue X‐chromosomale Muskeldystrophie
7. Characterisation of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells
8. Recent advances in retrovirus vector technology
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10. Vesicular stomatitis virus G glycoprotein pseudotyped retroviral vectors: concentration to very high titer and efficient gene transfer into mammalian and nonmammalian cells
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13. Deletion analysis of the dystrophin‐actin binding domain
14. New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin
15. Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity
16. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the X chromosome
17. Human dystrophin gene transfer: production and expression of a functional recombinant DNA‐based gene
18. Direct retroviral‐mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo
19. Independent localisation of dystrophin N‐ and C‐terminal regions to the sarcolemma of mdx mouse myofibres in vivo
20. Very mild muscular dystrophy associated with deletion of 46% of dystrophin
21. Dystrophin and the membrane skeleton
22. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus
23. Dystroglycan‐α, a dystrophin‐associated glycoprotein, is a functional agrin receptor
24. Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
25. Dystroglycan: brain localisation and chromosome mapping in the mouse
26. Gene therapy: present situation and future prospects
27. Dystrophin: the protein product of the Duchenne muscular dystrophy locus
28. Primary structure of dystrophin‐associated glycoproteins linking dystrophin to the extracellular matrix
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30. The potential for gene therapy in Duchenne muscular dystrophy and other genetic muscle disease
31. Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy
32. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected individuals
33. Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments
34. r 58,000 dystrophin‐associated protein (syntrophin)
35. Expression of recombinant dystrophin and its localisation to the cell membrane
36. Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients
37. Expression of recombinant genes in myocardium in vivo after direct injection of DNA
38. An autosomal transcript in skeletal muscle with homology to dystrophin
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41. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
42. Cell and gene therapy in Duchenne muscular dystrophy
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47. Efficient adenovirus‐mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice
48. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
49. Safety and short‐term toxicity of a novel cationic lipid formulation for human gene therapy
50. Apo‐dystrophin‐l and apo‐dystrophin‐2, products of the Duchenne muscular dystrophy locus: expression during mouse embryo‐genesis and in cultured cell lines
51. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy
52. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation
53. The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy
54. Widespread long‐term gene transfer to mouse skeletal muscles and heart
55. Gene therapy: the advent of adenovirus
56. Molecular organisation at the glycoprotein binding site of dystrophin: three dystrophin‐associated proteins bind directly to the carboxyl‐terminal portion of dystrophin
57. Apodystrophin‐3: a 2.2kb transcript from the DMD locus encoding the dystrophin glyco protein binding site
58. Increasing complexity of the dystrophin‐associated protein complex
59. Liposome‐mediated gene transfer into normal and dystrophin‐deficient mouse myoblasts
60. Increased protein degradation results from elevated free calcium levels found in muscle from mdx mice
61. Canine X‐linked muscular dystrophy: morphologic lesions
62. Long‐term correction of mouse dystrophic degeneration by adenovirus‐mediated transfer of a minidystrophin gene
63. Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice
64. Improved gene transfer by direct plasmid injection associated with regeneration in mouse skeletal muscle
65. Promoters, enhancers, and inducible elements for gene therapy
66. 5 promote adenovirus internalisation but not virus attachment
67. Direct gene transfer into mouse muscle in vivo
68. Inactivation of E2a in recombinant adenoviruses improves the prospect for gene therapy in cystic fibrosis