Sarcolemmopathy: Muscular dystrophies with cell membrane defects

Brain Pathology

Volumn 11, Issue 2, 2001, Pages 218-230

  Ozawa, Eijiro ^a   Nishino, Ichizo ^a   Nonaka, Ikuya ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN; DYSFERLIN; DYSTROBREVIN; DYSTROGLYCAN; DYSTROPHIN; INTEGRIN; MEROSIN; MUTANT PROTEIN; SARCOGLYCAN; UTROPHIN;

CLINICAL FEATURE; CONFERENCE PAPER; DUCHENNE MUSCULAR DYSTROPHY; GENE MUTATION; HISTOLOGY; HUMAN; MUSCLE ATROPHY; MUSCLE CONTRACTION; MUSCLE FIBER MEMBRANE; MUSCULAR DYSTROPHY; PROTEIN DEFECT; PROTEIN LOCALIZATION; SARCOLEMMA; SIGNAL TRANSDUCTION;

EID: 0035095579     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.2001.tb00394.x     Document Type: Conference Paper

References (68)

1. Dysferlin is a plasma membrane protein and is expressed early in human development
2. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
3. Eine neue x-chromosomale Muskeldystrophie
4. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
5. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees
6. Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein
7. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
8. The WW domain: A signalling site in dystrophin?
9. Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha 1-syntrophin mediated by PDZ domains
10. Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy
11. The alpha7beta1 integrin in muscle development and disease
12. Molecular organization of sarcoglycan complex in mouse myotubes in culture
13. Structural predictions for the central domain of dystrophin
14. Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy
15. Calcium ion and muscle contraction
16. High creatine phosphokinase activity of sera of progressive muscular dystrophy
17. Activity, creatine kinase, and myoglobin in Duchenne muscular dystrophy: A clue to etiology?
18. Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchennelike muscular dystrophy phenotype
19. Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies
20. Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: A model for Duchenne muscular dystrophy
21. Mutations in the integrin alpha7 gene cause congenital myopathy
22. Characterization of dystrophin in muscle biopsy specimens from patients with Duchenne muscular dystrophy
23. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
24. Defective association of dystrophin with sarcolemmal glycoproteins in the cardiomyopathic hamster heart
25. Alpha1-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration
26. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
27. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
28. Reduced collagen VI causes Bethlem myopathy: A heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
29. Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
30. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
31. An autosomal transcript in skeletal muscle with homology to dystrophin
32. Confocal laser microscopy of dystrophin localization in guinea pig skeletal muscle fibers
33. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
34. Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: Evidence of apoptosis in dystrophin-deficient muscle
35. Absence of integrin alpha 7 causes a novel form of muscular dystrophy
36. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
37. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy
38. Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy
39. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
40. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
41. Formation of sarcoglycan complex with differentiation in cultured myocytes
42. Reversible stimulation of muscle phosphorylase b kinase by low concentration of calcium ions
43. Dystrophinopathy and sarcoglycanopathy
44. From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy
45. Dystrophin-associated proteins in muscular dystrophy
46. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy
47. Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
48. Dystrophin colocalizes with beta-spectrin in distinct subsarcolemmal domains in mammalian skeletal muscle
49. Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice
50. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
51. Point mutations in the dystrophin gene
52. Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR
53. Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
54. Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane
55. Dystrobrevin and dystrophin: An interaction through coiled-coil motifs
56. New era of calpain research. Discovery of tissue-specific calpain
57. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37
58. Negative immunostaining of Duchenne muscular dystrophy (DMD) and mdx muscle surface membrane with antibody against synthetic peptide fragment predicted from DMD cDNA
59. Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain
60. Intrafamilial phenotypic variation in limb-girdle muscular dystrophy 2C with compound heterozygous mutations
61. Expression of a dystrophin-related protein associated with the skeletal muscle cell membrane
62. Expression of dystrophin on the cell surface membrane of intrafusal fibers of human skeletal muscle
63. Congenital muscular dystrophy with merosin deficiency
64. The sarcoglycan complex in the six autosomal recessive limbgirdle muscular dystrophies
65. The 87K postsynaptic membrane protein from Torpedo is a proteintyrosine kinase substrate homologous to dystrophin
66. Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy
67. The fourth component of the sarcoglycan complex
68. Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside