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Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects [PDF]
European Journal of Heart Failure, 2006 Primary desminopathies are caused by desmin gene [DES (MIM*125660)] mutations. The clinical spectrum includes pure myopathies, cardiomuscular diseases and cardiomyopathies. Patients with restrictive cardiomyopathy (RCM) plus atrioventricular block (AVB) due to DES defects are frequently unrecognized unless desmin accumulation is specifically ...
Eloisa Arbustini +2 more
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Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies
Muscle & Nerve, 1999Cytoplasmic body myopathy (CBM) and desmin-related myopathy (DRM) are both characterized by an abnormal accumulation of desmin. To determine whether these abnormalities involve similar or different forms of desmin, we performed desmin two-dimensional electrophoresis: our results showed an increase in the two acidic isoforms in CBM muscles as compared ...
A, Caron, F, Chapon
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Interference of amino‐terminal desmin fragments with desmin filament formation
Cell Motility, 2009AbstractShort polypeptides from intermediate filament (IF) proteins containing one of the two IF‐consensus motifs interfere severely with filament assembly in vitro. We now have systematically investigated a series of larger fragments of the muscle‐specific IF protein desmin representing entire functional domains such as coil1 or coil 2.
Bär, Harald +7 more
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Cardiomyocyte-specific desmin rescue of desmin null cardiomyopathy excludes vascular involvement
Journal of Molecular and Cellular Cardiology, 2004Mice deficient in desmin, the muscle-specific member of the intermediate filament gene family, display defects in all muscle types and particularly in the myocardium. Desmin null hearts develop cardiomyocyte hypertrophy and dilated cardiomyopathy (DCM) characterized by extensive myocyte cell death, calcific fibrosis and multiple ultrastructural defects.
Noah, Weisleder +4 more
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Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations
Annals of Neurology, 2001AbstractMuscle proteins were extracted in various sodium dodecyl sulfate buffers from 6 patients with myofibrillar myopathy (MFM) and previously identified with mutations in the desmin gene (desmin myopathy; DesM), 6 with MFM without mutations, and 14 disease controls to search for alterations in biochemistry and solubility of mutated desmin filaments.
M, Li, M C, Dalakas
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Current Opinion in Neurology, 1997
Desmin-related myopathies are marked by accumulation of desmin, which is often familial and associated with cardiomyopathy. When multifocal this excess is characterized by inclusions such as cytoplasmic or spheroid bodies, when disseminated the excess is called granulofilamentous material.
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Desmin-related myopathies are marked by accumulation of desmin, which is often familial and associated with cardiomyopathy. When multifocal this excess is characterized by inclusions such as cytoplasmic or spheroid bodies, when disseminated the excess is called granulofilamentous material.
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Desmin Filaments and Desmin-Related Myopathy
2015Desmin is the major intermediate filament protein in muscle tissue. In skeletal and cardiac muscle, desmin filaments distribute in the intermyofibrillar space to link adjacent myofibrils to each other at the z disc level, to the sarcolemma via costameres and sarcoglycan-dystroglycan complexes, and insert into to the nuclear envelope.
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Bulletin of the Academy of Sciences of the USSR Division of Chemical Science, 1987
1. A new mechanism is proposed for the dehydration of desmine, according to which dissociation of some of the water molecules coordinated with the calcium cations occurs to form hydroxyls after a certain stage. 2. It has been established that the processes of hydroxyl formation and dehydroxylation are the reasons for the irreversible ...
J. I. Mirzai +4 more
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1. A new mechanism is proposed for the dehydration of desmine, according to which dissociation of some of the water molecules coordinated with the calcium cations occurs to form hydroxyls after a certain stage. 2. It has been established that the processes of hydroxyl formation and dehydroxylation are the reasons for the irreversible ...
J. I. Mirzai +4 more
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Desmin at myotendinous junctions
Experimental Cell Research, 1992Myofibrils are linked to the cell membrane at myotendinous junctions located at the ends of muscle fibers, and at costameres, sites positioned periodically along lateral surfaces of muscle cells. Both of these sites are enriched in proteins that link active components of myofibrils to the cell membrane.
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Osteogenic Melanoma With Desmin Expression
The American Journal of Dermatopathology, 2017Background: Osteogenic differentiation is rarely seen in melanomas, when it occurs it is mainly in acral lesions. Methods: We report a case of an osteogenic melanoma in a 49-year-old woman who presented with a pigmented lesion in the subungueal region of her left hallux.
Flávia, Trevisan +8 more
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