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Defective membrane repair in dysferlin-deficient muscular dystrophy
TLDR
It is shown that disruption of the muscle membrane repair machinery is responsible for dysferlin-deficient muscle degeneration, and the importance of this basic cellular mechanism of membrane resealing in human disease is highlighted. Expand
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
TLDR
The results support a role for the striated muscle dystrophin-glycoprotein complex in linking the actin- based cytoskeleton with the extracellular matrix and suggest that dystophin and dystroglycan may play substantially different functional roles in nonmuscle tissues. Expand
Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
TLDR
The results suggest that at least three distinct mammalian genes function within a convergent post-translational processing pathway during the biosynthesis of dystroglycan, and that abnormal dystoglycan–ligand interactions underlie the pathogenic mechanism of muscular dystrophy with brain abnormalities. Expand
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
TLDR
The hypothesis that defects in dystroglycan are central to the pathogenesis of structural and functional brain abnormalities seen in CMD is strongly supported. Expand
Membrane organization of the dystrophin-glycoprotein complex
TLDR
It is demonstrated that dystrophin and its 59 kd associated protein are cytoskeletal elements that are tightly linked to a 156 kd extracellular glycoprotein by way of a complex of transmembrane proteins. Expand
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
TLDR
The hypothesis that the dramatic reduction in the 156K DAG in Duchenne muscular dystrophy leads to a loss of a linkage between the sarcolemma and extra-cellular matrix and that this may render muscle fibres more susceptible to necrosis is supported. Expand
Nomenclature of Voltage-Gated Calcium Channels
TLDR
A new nomen-ties of the channel complex, the pharmacological and clature of voltage-gated Ca 2ϩ channels, which electrophysiological diversity of Ca 2 ϩ channels arises is more systematic and mimics the well-defined K ϩ primarily from the existence of multiple forms of ␣ 1 sub-channel nomenclature. Expand
Auxiliary subunits: essential components of the voltage-gated calcium channel complex
TLDR
These studies have revealed the crucial role of the subunits in the functional effects that are mediated by voltage-gated calcium channels and revealed the importance of spontaneous and targeted mouse mutants. Expand
Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle
TLDR
The results suggest the presence of a large junctional complex spanning the two junctional membranes and intervening gap, which is an ideal candidate for a mechanical coupling hypothesis of excitation-contraction coupling at the triadic junction. Expand
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
TLDR
It is shown that four glycoproteins are integral components of the dystrophin complex and that the concentration of one of these is greatly reduced in DMD patients, suggesting the reduction in this glycoprotein may be one of the first stages of the molecular pathogenesis of muscular dystrophy. Expand
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