Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle

Journal of the Neurological Sciences

Volumn 186, Issue 1-2, 2001, Pages 51-57

  Sironi, Manuela ^a   Bardoni, Alessandra ^a   Felisari, Giorgio ^a   Cagliani, Rachele ^b   Robotti, Micaela ^a   Comi, Giacomo P ^b   Moggio, Maurizio ^b   Bresolin, Nereo ^a,b  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Duchenne Becker muscular dystrophy; Dystrophin brain isoform; Dystrophin Purkinje cell isoform; Ectopic expression; Skeletal muscle

Indexed keywords

DYSTROPHIN; VIMENTIN;

ADOLESCENT; ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SYNTHESIS; DUCHENNE MUSCULAR DYSTROPHY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; PRESCHOOL CHILD; PRIORITY JOURNAL; PURKINJE CELL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SKELETAL MUSCLE;

ADOLESCENT; ADULT; CHILD; DYSTROPHIN; GENE DELETION; GENE EXPRESSION; HUMANS; IMMUNOHISTOCHEMISTRY; ISOMERISM; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; POLYMYOSITIS; PURKINJE CELLS; RNA, MESSENGER; TRANS-ACTIVATION (GENETICS); VIMENTIN;

EID: 0035332670     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(01)00502-0     Document Type: Article

References (40)

1. The structural and functional diversity of dystrophin
2. Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene
3. Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart and brain development
4. Dystrophin gene transcribed from different promoters in neuronal and glial cells
5. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus
6. Duchenne Muscular Dystrophy gene product is not identical in muscle and brain
7. Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
8. Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain
9. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy
10. Up-regulation of the brain and Purkinje-cell forms of dystrophin transcripts, in Becker Muscular Dystrophy
11. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies
12. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical and histopathological data: Part I. Trends across the clinical groups
13. Mutation of dystrophin gene and cardiomyopathy
14. Improved diagnosis of Becker muscular dystrophy by dystrophin testing
15. Dystrophin in skeletal muscle: I. Western blot analysis using a monoclonal antibody
16. Congenital myopathy associated with abnormal accumulation of desmin and dystrophin
17. Deletion screening of the Duchenne Muscular Dystrophy locus via multiplex DNA amplification
18. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
19. Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach
20. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 Kb upstream of the nearest known promoter
21. A novel dystrophin isoform is required for normal retinal electrophysiology
22. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
23. Membrane organization of the dystrophin-glycoprotein complex
24. Protein sequence of DMD gene is related to actin binding domain of alfa-actinin
25. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
26. Localization of a dystrophin-related autosomal gene to 6q24 in man and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus
27. Dystrophin-related protein, Utrophin, in normal and dystrophic human fetal skeletal muscle
28. Reciprocal expression of dystrophin and utrophin in muscles of Duchenne muscular dystrophy patients, female DMD-carriers and control subjects
29. Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy
30. The dystrophin-related protein, utrophin is expressed on the sarcolemma of regenerating human skeletal muscle fibers in dystrophies and inflammatory myopathies
31. Duchenne muscular dystrophy gene expression in normal and diseased human muscle
32. Desmin and vimentin as markers of regeneration in muscle diseases
33. The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related
34. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy
35. Cross-binding of factors to functionally different promoter elements in c-fos and skeletal actin genes
36. Brain-type and muscle-type promoters of the dystrophin gene differ greatly in structure
37. A common factor regulates skeletal and cardiac alpha-actin gene transcription in muscle
38. Identification of multiple proteins that interact with functional regions of the human cardiac alpha-actinin promoter
39. MyoD is a sequence-specific DNA binding protein requiring a region of myc homology to bind to the muscle creatine kinase enhancer
40. Differences and similarities in DNA-binding preferences of MyoD and E2A protein complexes revealed by binding site selection