
Desmin - Wikipedia
Desmin is a protein that in humans is encoded by the DES gene. [5][6] Desmin is a muscle-specific, type III intermediate filament [7] that integrates the sarcolemma, Z disk, and nuclear membrane in sarcomeres and regulates sarcomere architecture. [8][9]
Desmin - MyPathologyReport.ca
Desmin is a protein made by muscle cells. Non-cancerous and cancerous tumours made up of muscle cells also produce desmin.
Pathology Outlines - Desmin
Desmin stain is a 52kDa cytoplasmic intermediate filament present in muscle and endothelial cells; expressed in neoplasms with myogenic differentiation Menu Chapters By Subspecialty
Desmin: a major intermediate filament protein essential for the ...
2004年11月15日 · Desmin is a muscle-specific protein and a key subunit of the intermediate filament in cardiac, skeletal and smooth muscles. Desmin filaments are mainly located at the periphery of Z-disk of striated muscles and at the dense bodies of smooth muscle cells, and they have been postulated to play a criti …
DES gene: MedlinePlus Genetics
The DES gene provides instructions for making a protein called desmin. Desmin is found in heart (cardiac) muscle and muscles used for movement (skeletal muscle). Within muscle fibers, desmin proteins are important to help maintain the structure of sarcomeres, which are necessary for muscles to tense (contract).
Desmin variants: Trigger for cardiac arrhythmias? - PMC
Genetic variations and loss of desmin drive a variety of conditions, so-called desminopathies, which include desmin-related cardiomyopathy, conduction system-related atrial and ventricular arrhythmias, and sudden cardiac death.
New roles for desmin in the maintenance of muscle homeostasis
Desmin is the primary intermediate filament (IF) of cardiac, skeletal, and smooth muscle. By linking the contractile myofibrils to the sarcolemma and cellular organelles, desmin IF contributes to muscle structural and cellular integrity, force transmission, and mitochondrial homeostasis.
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin …
2025年2月19日 · Pathogenic/likely pathogenic (LP) desmin (DES) variants cause heterogeneous cardiomyopathy and skeletal myopathy phenotypes.
Desmin Modulates Muscle Cell Adhesion and Migration - PMC
We report that desmin, a type-III muscle-specific intermediate filament, is a novel cell adhesion regulator. Expression of p.R406W mutant desmin, identified in patients with desmin-related myopathy, modified focal adhesion area and expression of adhesion-signaling genes in …
Unraveling Desmin’s Head Domain Structure and Function
Desmin is a member of the large multigene family of IF proteins and is specifically expressed in myocytes. In an effort to elucidate its muscle-specific behavior, we have used a yeast two-hybrid system in order to identify desmin’s head binding partners.