Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations
| العنوان: | Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations |
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| المؤلفون: | Peter F.M. van der Ven, Montse Olivé, Matthias Vorgerd, Jörg Höhfeld, Rudolf A. Kley, Lev G. Goldfarb, Dieter O. Fürst |
| المصدر: | Autophagy. 9:422-423 |
| بيانات النشر: | Informa UK Limited, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Proteasome Endopeptidase Complex, Filamins, Biology, Protein aggregation, Protein degradation, Filamin, Contractile Proteins, Muscular Diseases, Myofibrils, Ubiquitin, Heat shock protein, medicine, Humans, FLNC, Muscle, Skeletal, Molecular Biology, Cells, Cultured, Heat-Shock Proteins, Microfilament Proteins, Skeletal muscle, Cell Biology, Autophagic Punctum, Cell biology, medicine.anatomical_structure, Biochemistry, Mutation, Proteolysis, biology.protein, Myofibril, Molecular Chaperones |
| الوصف: | Myofibrillar myopathy caused by FLNC/filamin C mutations is characterized by disintegration of myofibrils and a massive formation of protein aggregates within skeletal muscle fibers. We performed immunofluorescence studies in skeletal muscle sections from filaminopathy patients to detect disturbances of protein quality control mechanisms. Our analyses revealed altered expression of chaperone proteins and components of proteasomal and autophagic degradation pathways in abnormal muscle fibers that harbor protein deposits but not in neighboring muscle fibers without pathological protein aggregation. These findings suggest a dysfunction of protein stabilizing and degrading mechanisms that leads to a pathological accumulation of protein aggregates in abnormal fibers. Accordingly, a pharmacological modulation of chaperone activity may be a promising therapeutic strategy to prevent protein aggregation and to reduce disease progression. Newly established filaminopathy cell culture models provide a suitable basis for testing such pharmacological approaches. |
| تدمد: | 1554-8635 1554-8627 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f4fcfc17b0fe8cbebbdadb06571c25Test https://doi.org/10.4161/auto.22921Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f7f4fcfc17b0fe8cbebbdadb06571c25 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15548635 15548627 |
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