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Desmin pathology in neuromuscular diseases
Virchows Archiv B Cell Pathology Including Molecular Pathology, 1993Desmin is an intermediate filament protein that in striated muscle is normally located at Z-bands, beneath the sarcolemma, and prominently at neuromuscular junctions. It is abundant during myogenesis and in regenerating fibers, but decreases in amount with maturation; in regenerating and denervated muscle fibers it is co-expressed with vimentin ...
H H, Goebel, A, Bornemann
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Experimental Cell Research, 2011
Disorganization of the desmin network is associated with cardiac and skeletal myopathies characterized by accumulation of desmin-containing aggregates in the cells. Multiple associations of intermediate filament proteins form a network to increase mechanical and functional stability. Synemin is a desmin-associated type VI intermediate filament protein.
Chourbagi O. +6 more
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Disorganization of the desmin network is associated with cardiac and skeletal myopathies characterized by accumulation of desmin-containing aggregates in the cells. Multiple associations of intermediate filament proteins form a network to increase mechanical and functional stability. Synemin is a desmin-associated type VI intermediate filament protein.
Chourbagi O. +6 more
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[Desmin-related cardiomyopathy].
Arkhiv patologii, 2011The observation of 26 years old patient with desminopathy declared itself by hypertrophied cardiomyopathy with its transformation into restrictive phenotype is presented. The features of pathologic course at the patient were a dominance and diversity of cardiac manifestations.
M G, Rybakova +4 more
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New roles for desmin in the maintenance of muscle homeostasis
FEBS Journal, 2022Harald Herrmann, Shenhav Cohen
exaly
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Human mutation, 2001Desmin-related myopathy is a familial or sporadic disease characterized by skeletal muscle weakness and cardiomyopathy as well as the presence of intracytoplasmic aggregates of desmin-reactive material in the muscle cells. Previously, two kinds of deletions and eight missense mutations have been identified in the desmin gene and proven to be ...
Goudeau, Bertrand +8 more
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A novel mutation in desmin gene causing desmin myopathy (3020)
Neurology, 2021Swathi Beladakere Ramaswamy +3 more
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Post-translational modifications of intermediate filament proteins: mechanisms and functions
Nature Reviews Molecular Cell Biology, 2014Natasha T Snider, M Bishr Omary
exaly