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- W75335924 abstract "AbstractDesmin is the major intermediate filament protein in muscle cells and is one of the earliest myogenic markers of skeletal and cardiac muscle differentiation. The muscle-specific expression of desmin is regulated by a unique combination of transcriptional and epigenetic controls. Desmin protein functions in the maintenance of myofibril organization and structural and functional integrity of muscle. Loss-of-function studies in mice suggest an additional role for desmin in mitochondrial distribution, morphology, and function. Mutations in desmin or its chaperone protein αB-crystallin are associated with myopathy of skeletal and cardiac muscle. The “desminopathies” are characterized by the accumulation of intracellular desmin-positive protein inclusions and gain of function transgenic models show that mutations in desmin and αB-crystallin are autosomal dominant and sufficient to recapitulate the most important aspects of the human disease. Further study of these models has revealed that a large number of pathological processes are involved in disease development, which may provide starting points for targeting future therapeutic interventions.KeywordsIntermediate Filament ProteinLocus Control RegionFamilial Hypertrophic CardiomyopathyIntracellular AggregateDesmin FilamentThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves." @default.
- W75335924 created "2016-06-24" @default.
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- W75335924 date "2012-01-01" @default.
- W75335924 modified "2023-09-25" @default.
- W75335924 title "Desmin and Heart Disease" @default.
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- W75335924 doi "https://doi.org/10.1007/978-1-61779-788-0_19" @default.
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