Functional impact of the head domain variants of DES (Desmin) on filament assembly  

作　　者：Sabrina Voß Volker Walhorn Stephanie Holler Anna Gärtner Greta Pohl Jens Tiesmeier Jan Gummert Dario Anselmetti Hendrik Milting Andreas Brodehl 

机构地区：[1]Erich and Hanna Klessmann Institute,Heart and Diabetes Center NRW,University Hospital of the Ruhr-University Bochum,Georgstrasse 11,Bad Oeynhausen D-32545,Germany [2]Experimental Biophysics & Applied Nanoscience,Faculty of Physics,Bielefeld University,Universitätsstrasse 25,Bielefeld 33615,Germany [3]Institute for Anesthesiology,Intensive Care- and Emergency Medicine,MKK-Hospital Luebbecke,Campus OWL,Ruhr-University Bochum,Virchowstrasse 65,Lübbecke 32312,Germany

出　　处：《Genes & Diseases》2025年第1期93-96,共4页基因与疾病(英文)

基　　金：financial support of the Ruhr-University Bochum(FoRUM,F1074-2023)and of the Deutsche Herzstiftung e.V.(Frankfurt a.M.)。

摘　　要：Desmin is a muscle-specific intermediate filament protein,which plays a significant role in providing structural integrity of cardiomyocytes by connecting different cell organelles and multi-protein complexes.1 Pathogenic DEs mutations cause different cardiomyopathies and skeletal myopathies.2 The most obvious hallmark of pathogenic DES mutations is an aberrant cytoplasmic desmin accumulation.3 However,driven by a broad clinical application of next-generation sequencing techniques and advanced classification criteria,the number of variants of unknown significance increased significantly during the last years.Especially,the impact of DES variants within the N-terminal head domain on the filament assembly is widely unknown.

关 键 词：DESMIN IMPACT HEAD 

分 类 号：Q514[生物学—生物化学]