Desmin: a major intermediate filament protein essential for the ...
网页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 ….
Desmin - Wikipedia
网页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]
New roles for desmin in the maintenance of muscle homeostasis
网页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 …
What does desmin do: A bibliometric assessment of the functions …
网页2022年2月7日 · Abstract. Intermediate filaments were first described in muscle in 1968, and desmin was biochemically identified about 10 years afterwards. Its importance grew after the identification of desminopathies and desmin mutations that …
Desmin Related Disease: A Matter of Cell Survival Failure
网页Dysfunctional desmin network due to mutations in the desmin gene (DES) or posttranslational modifications causes skeletal and cardiac myopathies, collectively called desmin related myopathies (DRMs) or desminopathies.
Desmin in muscle and associated diseases: beyond the structural ...
网页Desmin is a muscle-specific type III intermediate filament essential for proper muscular structure and function. In human, mutations affecting desmin expression or promoting its aggregation lead to skeletal (desmin-related myopathies), or cardiac (desmin-related cardiomyopathy) phenotypes, or both. …
Desmin variants: Trigger for cardiac arrhythmias? - PMC
网页2022年9月9日 · 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.
DES Gene - GeneCards | DESM Protein | DESM Antibody
网页2024年8月5日 · GeneCards Summary for DES Gene. DES (Desmin) is a Protein Coding gene. Diseases associated with DES include Myopathy, Myofibrillar, 1 and Scapuloperoneal Syndrome, Neurogenic, Kaeser Type. Among its related pathways are Striated muscle contraction pathway and Cardiac conduction.
New roles for desmin in the maintenance of muscle homeostasis
网页2021年4月7日 · 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.
Desmin - an overview | ScienceDirect Topics
网页Desmin is a cytoplasmic IFP that is characteristically found in muscle cells and in the neoplasms associated with them. 23–25 In smooth muscle cells, it is seen with cytoplasmic dense bodies and subplasmalemmal dense plaques; in striated muscle, desmin filaments are linked to sarcomeric Z disks.