Zobrazeno 1 - 10
of 271
pro vyhledávání: '"desminopathy"'
Autor:
Carolin Berwanger, Dominic Terres, Dominik Pesta, Britta Eggers, Katrin Marcus, Ilka Wittig, Rudolf J. Wiesner, Rolf Schröder, Christoph S. Clemen
Publikováno v:
European Journal of Cell Biology, Vol 103, Iss 2, Pp 151399- (2024)
Desmin gene mutations cause myopathies and cardiomyopathies. Our previously characterised R349P desminopathy mice, which carry the ortholog of the common human desmin mutation R350P, showed marked alterations in mitochondrial morphology and function
Externí odkaz:
https://doaj.org/article/322edd1d0b5e42938e98a96645053b1d
Publikováno v:
Physiological Reports, Vol 12, Iss 8, Pp n/a-n/a (2024)
Abstract Desminopathy R350P is a human myopathy that is characterized by the progressive loss of muscle fiber organization. This results in the loss of muscle size, mobility, and strength. In desminopathy, inflammation affects muscle homeostasis and
Externí odkaz:
https://doaj.org/article/bdc27a9221d34915bacbe28b9eb07234
Autor:
Viacheslav Yu. Pauls
Publikováno v:
Siberian Journal of Life Sciences and Agriculture, Vol 15, Iss 2, Pp 265-283 (2023)
Background. A rare muscular disease, desminopathy, is caused by mutations in the DES gene. At present, information about changes in the microbiota of biological media present in such patients is very scarce. Purpose. The aim of the study is to stu
Externí odkaz:
https://doaj.org/article/7d26391fe0844735b4df3e3a984caa39
Autor:
Andres Thorkelsson, Michael T. Chin
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2826 (2024)
Alpha-B-crystallin, a member of the small heat shock family of proteins, has been implicated in a variety of cardiomyopathies and in normal cardiac homeostasis. It is known to function as a molecular chaperone, particularly for desmin, but also inter
Externí odkaz:
https://doaj.org/article/be2445748b0844bc83ad685d2f6c2a6e
Autor:
Dennis Yeow, Matthew Katz, Robert Henderson, Sandhir Prasad, Russell Denman, Stefan Blum, Mark Davis, Thomas Robertson, Pamela McCombe
Publikováno v:
Frontiers in Neurology, Vol 13 (2023)
The DES gene encodes desmin, a key intermediate filament of skeletal, cardiac and smooth muscle. Pathogenic DES variants produce a range of skeletal and cardiac muscle disorders collectively known as the desminopathies. We report three desminopathy c
Externí odkaz:
https://doaj.org/article/efe065c33a7949669faef29a3555a709
Akademický článek
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Akademický článek
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Publikováno v:
Clinical Case Reports, Vol 8, Iss 2, Pp 283-288 (2020)
Abstract Performing a supplementation intervention with creatine and protein, in conjunction with low‐intensity endurance and resistance exercise is safe and has a positive effect on the quality of life in a patient with desminopathy.
Externí odkaz:
https://doaj.org/article/dd1c4b3c664d44dc87c94d096f8210d2
Publikováno v:
Alʹmanah Kliničeskoj Mediciny, Vol 47, Iss 7, Pp 603-613 (2019)
Cardiomyopathy (CMP) is a common group of cardiovascular disorders. Genetic (primary) cardiomyopathies are related to abnormalities in more than 100 genes, including the DES gene encoding desmin protein. Desmin is an essential member of the intermedi
Externí odkaz:
https://doaj.org/article/373582607bc54bcc8db7f819d665fec3
Autor:
Arnulf Koeppen, Rahman Rafique, Joseph Mazurkiewicz, Steven Pelech, Catherine Sutter, Qishan Lin, Jiang Qian
Publikováno v:
Free Neuropathology, Vol 2 (2021)
Heart disease is an integral part of Friedreich ataxia (FA) and the most common cause of death in this autosomal recessive disease. The result of the mutation is lack of frataxin, a small mitochondrial protein. The clinical and pathological phenotype
Externí odkaz:
https://doaj.org/article/dde738cb06bb49a6b38444ef31053820