Article
Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties.
Biochimica et biophysica acta. Molecular basis of disease - 1 Jun 2020
Smolina Natalia, Khudiakov Aleksandr, Knyazeva Anastasiya, Zlotina Anna, Sukhareva Kseniya, Kondratov Kirill, Gogvadze Vladimir, Zhivotovsky Boris, Sejersen Thomas, Kostareva Anna
Abstract excerpt
Desmin, being a major intermediate filament of muscle cells, contributes to stabilization and positioning of mitochondria. Desmin mutations have been reported in conjunction with skeletal myopathies accompanied by mitochondrial dysfunction. Depending on the ability to promote intracellular aggregates formation, mutations can be considered aggregate-prone or non-aggregate-prone. The aim of the present study was to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.