ISSN:0148-639X    

DOI:10.1002/mus.880030102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractIn Duchenne muscular dystrophy, as in other genetic diseases, there must be a biochemical abnormality. This fundamental genetic fault has not been identified, but several indirect lines of evidence suggest that the surface membranes of skeletal muscle are affected. The biochemical evidence implies abnormal egress of soluble enzymes and other proteins from muscle, abnormal permeability, and altered properties of membrane‐bound enzymes. As a result of the presumed genetic abnormality, functional properties are altered, and impaired regulation of intracellular calcium content could be responsible for the hallmarks of the disease—progressive weakness and degeneration of muscle. The evidence is by no means conclusive, however, and some of it is contradictory. Technical advances must be made before isolated membranes can be characterized biochemically. Other theories are also being evalua

ISSN:0148-639X    

DOI:10.1002/mus.880030103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractThis is a review of the application of the freeze fracture technique to the study of human neuromuscular disease. The advantages and limitations of the method are discussed, and the application of the technique is illustrated by a study of skeletal muscle plasma membrane in Duchenne muscular dystrophy.

ISSN:0148-639X    

DOI:10.1002/mus.880030104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractThis is a review of the application of cell surface cytochemistry to the study of human neuromuscular disease. The advantages and limitations of the use of lectins coupled to peroxidase are discussed, and the application of this technique is illustrated by a study of the surface of muscle cells in Duchenne muscular dystrophy and polymyositis.

ISSN:0148-639X    

DOI:10.1002/mus.880030105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractThe literature concerning red blood cell and fibroblast protein studies in Duchenne and myotonic muscular dystrophy is critically reviewed. In this review, we emphasize methodological and technical considerations in order to promote an appreciation of the complexities of this area of research to clinical scientists interested in muscle disease.

ISSN:0148-639X    

DOI:10.1002/mus.880030106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractWe review our current understanding of membrane phosphorylation in normal and abnormal erythrocytes. The major phosphoproteins in red blood cell (RBC) membranes are spectrin (band 2), bands 3, 2.1, and 4.5, and glycophorin A. At least two protein kinases can be distinguished on the basis of their stimulation by cyclic AMP and salt; they are present both in the membrane and in the cytosol. Analysis of the conflicting data on endogenous membrane‐protein phosphorylation in abnormal RBCs indicates a considerable variability of phosphorylation rates which largely depends on the manner of preparation of ghosts and enzyme assay conditions. This variability reflects differences in the partitioning of protein kinases between the membrane and cytosol, the specificity and accessibility of membrane‐protein substrates, and reaction kinetics. We select examples of data from several hemolytic anemias to illustrate that precautions are needed to interpret abnormalities of membrane‐protein phosphorylation properly; we discuss possible new methodological appro

ISSN:0148-639X    

DOI:10.1002/mus.880030107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractBiochemical, morphologic, and biophysical studies support the concept that the red blood cell (RBC) membrane is altered in both myotonic muscular dystrophy (MyD) and Duchenne muscular dystrophy (DMD). These studies have not identified a primary metabolic defect that would explain the various alterations of membrane properties. Since the lipid milieu of the membrane affects most membrane properties, it has been extensively investigated in MyD and DMD. Although some studies have suggested specific lipid abnormalities, no reproducible alterations have been reported in the major lipid constituents of the RBC membrane in these disorders. These findings suggest that major alterations of the predominant membrane lipids are not involved in these diseases. Furthermore, studies of the RBC membrane do not provide definitive statements as to the inborn error of metabolism, whether proteins or lipid constituents are primarily affected, or even whether the described alterations are intrinsic to the membrane or are secondary to some circulating factors. Nevertheless, RBCs have proved useful in demonstrating the involvement of the plasma membrane in muscle disorders and should be important in defining how such membrane perturbations affect transport mechanisms.

ISSN:0148-639X    

DOI:10.1002/mus.880030108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

摘要:

AbstractThis review deals with recent physical approaches to the study of biomembranes. First, current concepts of the structure and dynamic organization of biological membranes are considered. The theoretical basis and practical application of various physical probe techniques are then discussed with specific reference to their usefulness in studies of these membranes. Particular emphasis is given to electron spin resonance and fluorescence techniques and to the potential difficulties encountered in their use and interpretation. Finally, reports applying these physical probes to various aspects of the human muscular dystrophies are reviewed and our current information in this area is summarized.

ISSN:0148-639X    

DOI:10.1002/mus.880030109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

ISSN:0148-639X    

DOI:10.1002/mus.880030110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY

ISSN:0148-639X    

DOI:10.1002/mus.880030112

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1980

数据来源: WILEY