A mutation in α-tropomyosinslow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy

Human Molecular Genetics

Volumn 10, Issue 4, 2001, Pages 317-328

  Corbett, Mark A ^a   Robinson, C Stephen ^a   Dunglison, Greta F ^a   Yang, Nan ^b   Joya, Josephine E ^a   Stewart, Angus W ^d   Schnell, Christina ^b   Gunning, Peter W ^b,c   North, Kathryn N ^b,c   Hardeman, Edna C ^a  

^a CHILDREN'S MEDICAL RESEARCH INSTITUTE   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d EDITH COWAN UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; TROPOMYOSIN;

ADOLESCENT; AGE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BIOACCUMULATION; CELL COMPOSITION; CELL INCLUSION; CELL SIZE; CONTROLLED STUDY; FAST MUSCLE FIBER; FEMALE; GENETIC DISORDER; MATURATION; MECHANICS; MOUSE; MUSCLE HYPERTROPHY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUTANT; NEMALINE MYOPATHY; NONHUMAN; ONSET AGE; OXIDATION; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SARCOMERE; SKELETAL MUSCLE; SLOW MUSCLE FIBER; TRANSGENIC MOUSE;

AMINO ACID SUBSTITUTION; ANIMALS; ARGININE; DISEASE MODELS, ANIMAL; DISSECTION; FEMALE; GLYCOLYSIS; HUMANS; HYPERTROPHY; INCLUSION BODIES; METHIONINE; MICE; MICE, INBRED STRAINS; MICE, TRANSGENIC; MICROTUBULES; MUSCLE DEVELOPMENT; MUSCLE FIBERS, FAST-TWITCH; MUSCLE FIBERS, SLOW-TWITCH; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MYOPATHIES, NEMALINE; OXIDATION-REDUCTION; POINT MUTATION; RNA, MESSENGER; SARCOPLASMIC RETICULUM; STRONTIUM; TROPOMYOSIN;

ANIMALIA; MUS MUSCULUS;

EID: 0035864823     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (58)

1. Nemaline myopathy: Current concepts. The ENMC International Consortium on Nemaline Myopathy
2. Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion
3. Fast to slow change of myosin in nemaline myopathy: Electrophoretic and immunologic evidence
4. Immunofluorescence microscopy of a myopathy. Alpha-actinin is a major constituent of nemaline rods
5. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: Immunological confirmation by light and electron microscopy
6. Actin filaments form the backbone of nemaline myopathy rods
7. Nemaline myopathy rod bodies. Structure and composition
8. The three-dimensional structure of the nemaline rod Z-band
9. Common origin of rods, cores, miniature cores, and focal loss of cross-striations
10. Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy
11. Skeletal muscle involvement in HIV-infected patients
12. Experimental core-like lesions and nemaline rods. A correlative morphological and physiological study
13. Nemaline rods in canine myopathies: 4 case reports and literature review
14. Nemaline myopathy of cats
15. Congenital nemaline myopathy. A clinical follow-up of twelve patients
16. Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe infantile nemaline myopathy
17. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1
18. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
19. Mutations in the skeletal muscle alpha actin gene in patients with actin myopathy and nemaline myopathy
20. Characterization of lethal Drosophila melanogaster alpha-actinin mutants
21. Dispensability of the actin-binding site and spectrin repeats for targeting sarcomeric alpha-actinin into maturing Z bands in vivo: Implications for in vitro binding studies
22. Tropomyosin. Structural and functional diversity
23. A new look at thin filament regulation in vertebrate skeletal muscle
24. Molecular and physiological effects of overexpressing striated muscle beta-tropomyosin in the adult murine heart
25. The human troponin I slow promoter directs slow fiber-specific expression in transgenic mice
26. Regulation of c-ski transgene expression in developing and mature mice
27. Identification, distribution, and myosin subunit composition of type IIX fibers in mouse muscles
28. Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene
29. Muscle pain associated with tubular aggregates and structures resembling cylindrical spirals
30. On a dominantly inherited myopathy with tubular aggregates
31. Calcium and strontium activation of single skinned muscle fibres of normal and dystrophic mice
32. Wheat kernel ingestion protects from progression of muscle weakness in mdx mice, an animal model of Duchenne muscular dystrophy
33. Nemaline myopathy: Report of a fatal case, with histochemical and electron microscopic studies
34. Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: A case report
35. Ultrastructural changes in diseased muscle
36. A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production
37. The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy
38. Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle
39. Adaptations in myosin heavy chain expression and contractile function in dystrophic mouse diaphragm
40. Cooperative interactions between troponin-tropomyosin units extend the length of the thin filament in skeletal muscle
41. Calcium-activated force responses in fast- and slow-twitch skinned muscle fibres of the rat at different temperatures
42. 2+ activation properties
43. Muscle development in mdx mutant mice
44. Growth and muscle defects in mice lacking adult myosin heavy chain genes
45. Collagen VI deficiency induces early onset myopathy in the mouse: An animal model for Bethlem myopathy
46. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
47. Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I
48. Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice
49. Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy
50. Genomic sequencing
51. Isometric contractions of motor units and immunohistochemistry of mouse soleus muscle
52. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
53. Electroblotting of immobiline dry plates applied to identification of human plasma apolipoprotein A-I
54. Two monoclonal antibodies to actin: One muscle selective and one generally reactive
55. Neonatal myosin heavy chains are not expressed in Ni-induced rat rhabdomyosarcoma
56. Three myosin heavy chain isoforms in type 2 skeletal muscle fibres