ArticleFASEB journal : official publication of the Federation of American Societies for Experimental Biology2008
A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization.
Article in FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 42 citations in OpenAlex.
- Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.Frontiers in physiology · 2023Review
- The AAA-ATPase ATAD1 and its partners promote degradation of desmin intermediate filaments in muscle.EMBO reports · 2022Article
- What does desmin do: A bibliometric assessment of the functions of the muscle intermediate filament.Experimental biology and medicine (Maywood, N.J.) · 2022Article
- Desmin Modulates Muscle Cell Adhesion and Migration.Frontiers in cell and developmental biology · 2022Article
- Crosstalk between coagulation and complement activation promotes cardiac dysfunction in arrhythmogenic right ventricular cardiomyopathy.Theranostics · 2021Article
- A cytoplasmic escapee: desmin is going nuclear.Turkish journal of biology = Turk biyoloji dergisi · 2021Review
- Transcription Factor EB Activation Rescues Advanced αB-Crystallin Mutation-Induced Cardiomyopathy by Normalizing Desmin Localization.Journal of the American Heart Association · 2019Article
- GSK3-β promotes calpain-1-mediated desmin filament depolymerization and myofibril loss in atrophy.The Journal of cell biology · 2018Article
- Intermediate filaments in cardiomyopathy.Biophysical reviews · 2018Review
- αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.Cell stress & chaperones · 2017Article
- Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.Journal of neuromuscular diseases · 2017Review
- Increased level of phosphorylated desmin and its degradation products in heart failure.Biochemistry and biophysics reports · 2016Article
- Desmin related disease: a matter of cell survival failure.Current opinion in cell biology · 2015Review
- Caspase cleavage of GFAP produces an assembly-compromised proteolytic fragment that promotes filament aggregation.ASN neuro · 2013Article
- Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.Skeletal muscle · 2013Article
- Desminopathies: pathology and mechanisms.Acta neuropathologica · 2013Review
- N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy.PloS one · 2013Article
- Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model.Disease models & mechanisms · 2013Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
A missense mutation (Ile 451 to Met) at the tail domain of the muscle-specific intermediate filament protein desmin has been suggested to be a genetic cause of dilated cardiomyopathy. The Ile451Met mutation is located inside a conserved motif in the desmin tail domain, believed to have a potential role in the lateral packing of type III intermediate filaments. Nevertheless, the role of the type III intermediate filament tail domain remains elusive. To further study the role of this domain in the function of cardiomyocytes and in the development of cardiomyopathy, we generated transgenic mice expressing the mutant desmin(I451M) in the cardiac tissue. Analysis of hearts from transgenic animals revealed that mutant desmin loses its Z-disc localization but it can still associate with the intercalated discs, which, however, have an altered architecture, resembling other examples of dilated cardiomyopathy. This is the first report demonstrating a critical role of the desmin head and tail domains in the formation of the IF scaffold around Z discs. It is further suggested that in cardiomyocytes, an interplay between desmin tail and head domains is taking place, which potentially protects the amino terminus of desmin from specific proteases. The fact that the association with intercalated discs seems unchanged suggests that this association must take place through the desmin tail, in contrast to the head domain that is most possibly involved in the Z-disc binding.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.