{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Holtzhausen C"],"funding":["Deutsche Forschungsgemeinschaft (DFG)","Deutsche Gesellschaft für Muskelkranke","Deutsche Gesellschaft für Muskelkranke (DGM)","Interdisciplinary Center for Clinical Research (IZKF), Universitätsklinikum Erlangen"],"pagination":["e70038"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12433831"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["51(5)"],"pubmed_abstract":["<h4>Aims</h4>The classical morphological hallmarks of the clinically and genetically diverse group of human myofibrillar myopathies are signs of myofibrillar degeneration and desmin-positive protein aggregates. The local sarcomeric enrichment of filamin-C and xin actin-binding repeat-containing proteins 1 and 2 (xirp 1 and xirp 2) is a marker of myofibrillar damage. This work aimed to (i) address filamin-C- and xirp 1/2-positive sarcomeric lesions in desminopathy mouse models, (ii) develop an approach to quantifying xirp 1/2-positive sarcomeric lesions, and (iii) study the effects of acute physical exercise on sarcomeric lesion formation in R349P desmin knock-in mice, which are a model of human R350P desminopathy.<h4>Methods</h4>Sarcomeric lesions were visualised by xirp 1/2 and filamin-C "],"journal":["Neuropathology and applied neurobiology"],"pubmed_title":["Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research."],"pmcid":["PMC12433831"],"funding_grant_id":["CL 381/12-1","SCHR 562/22-1","FU 339/13-1","SCHR 562/19-1","Cl3/2"],"pubmed_authors":["Schultheis D","van der Ven PFM","Schlotzer-Schrehardt U","Riehl-Nestler M","Berwanger C","Mahabir E","Clemen CS","Holtzhausen C","Batonnet-Pichon S","Schroder R","Schuld J","Furst DO","Lilienbaum A"],"additional_accession":[]},"is_claimable":false,"name":"Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research.","description":"<h4>Aims</h4>The classical morphological hallmarks of the clinically and genetically diverse group of human myofibrillar myopathies are signs of myofibrillar degeneration and desmin-positive protein aggregates. The local sarcomeric enrichment of filamin-C and xin actin-binding repeat-containing proteins 1 and 2 (xirp 1 and xirp 2) is a marker of myofibrillar damage. This work aimed to (i) address filamin-C- and xirp 1/2-positive sarcomeric lesions in desminopathy mouse models, (ii) develop an approach to quantifying xirp 1/2-positive sarcomeric lesions, and (iii) study the effects of acute physical exercise on sarcomeric lesion formation in R349P desmin knock-in mice, which are a model of human R350P desminopathy.<h4>Methods</h4>Sarcomeric lesions were visualised by xirp 1/2 and filamin-C ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Oct","modification":"2026-06-01T14:02:12.539Z","creation":"2026-04-08T13:10:24.745Z"},"accession":"S-EPMC12433831","cross_references":{"pubmed":["40947309"],"doi":["10.1111/nan.70038"]}}