{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T04:03:36Z","timestamp":1746763416422,"version":"3.40.5"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T00:00:00Z","timestamp":1740960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018929","name":"German Network for Bioinformatics Infrastructure","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018929","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SCHR 562\/19\u20101","CL 381\/12\u20101"],"award-info":[{"award-number":["SCHR 562\/19\u20101","CL 381\/12\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Desminopathies are a group of rare human myopathies and cardiomyopathies caused by pathogenic variants of the desmin gene. Here, we analyzed the effects of the R349P mutant desmin on the proteomic profiles of individual fiber types of murine skeletal muscle.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Soleus and tibialis anterior muscles from hetero\u2010 and homozygous R349P desmin knock\u2010in mice and wild\u2010type siblings were used to collect fiber type\u2010specific material by laser microdissection to determine their proteomic profiles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Aberrant proteomic profiles were observed in all four fiber types of homozygous mice. Type I and IIa fibers from homozygous muscle showed an increased abundance of 15 fibrotic proteins, for example, collagens I, IV, and VI, and associated proteins. Filamin\u2010C, xin actin\u2010binding repeat\u2010containing proteins 1 and 2, and Kelch\u2010like protein 41 were more abundant in homozygous fibers. A high number of proteins associated with the mitochondrial complexes had markedly lower amounts in all types of homozygous and type IIb heterozygous fibers, whereby 20 proteins of complex I, 6 proteins of complex III, 7 proteins of complex IV, and 4 proteins of complex V were found to be decreased in homozygous mice in at least one fiber type. This reduction included all mtDNA\u2010encoded proteins of complexes I and V, as well as ADP\/ATP translocase 1 and 2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Our proteomic findings highlight a more severe myodegenerative process in fibers derived from homozygous R349P desmin knock\u2010in mice. R349P desmin altered the abundance of proteins of the sarcomeric and extrasarcomeric cytoskeleton, extracellular matrix, and mitochondrial energy metabolism.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.28379","type":"journal-article","created":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T03:20:11Z","timestamp":1741576811000},"page":"1113-1121","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Fiber Type\u2010Specific Proteomic Alterations in <scp>R349P<\/scp> Desminopathy Mice"],"prefix":"10.1002","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6553-4631","authenticated-orcid":false,"given":"Britta","family":"Eggers","sequence":"first","affiliation":[{"name":"Medizinisches Proteom\u2010Center, Medical Faculty Ruhr\u2010University Bochum  Bochum Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI) Ruhr\u2010University Bochum  Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3756-4347","authenticated-orcid":false,"given":"Karin","family":"Schork","sequence":"additional","affiliation":[{"name":"Medizinisches Proteom\u2010Center, Medical Faculty Ruhr\u2010University Bochum  Bochum Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI) Ruhr\u2010University Bochum  Bochum Germany"},{"name":"Core Unit for Bioinformatics (CUBiMed.RUB), Medical Faculty Ruhr\u2010University Bochum  Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0737-1114","authenticated-orcid":false,"given":"Michael","family":"Turewicz","sequence":"additional","affiliation":[{"name":"Medizinisches Proteom\u2010Center, Medical Faculty Ruhr\u2010University Bochum  Bochum Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI) Ruhr\u2010University Bochum  Bochum Germany"},{"name":"Institute for Clinical Biochemistry and Pathobiochemistry, German Diabetes Center (DDZ), Leibniz Center for Diabetes Research at the Heinrich Heine University D\u00fcsseldorf, D\u00fcsseldorf Germany and German Center for Diabetes Research (DZD)  M\u00fcnchen\u2010Neuherberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Barkovits","sequence":"additional","affiliation":[{"name":"Medizinisches Proteom\u2010Center, Medical Faculty Ruhr\u2010University Bochum  Bochum Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI) Ruhr\u2010University Bochum  Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2687-7444","authenticated-orcid":false,"given":"Martin","family":"Eisenacher","sequence":"additional","affiliation":[{"name":"Medizinisches Proteom\u2010Center, Medical Faculty Ruhr\u2010University Bochum  Bochum Germany"},{"name":"Medical Proteome Analysis, Center for Protein Diagnostics (PRODI) Ruhr\u2010University Bochum  Bochum Germany"},{"name":"Core Unit for Bioinformatics (CUBiMed.RUB), Medical Faculty Ruhr\u2010University Bochum  Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf","family":"Schr\u00f6der","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, University Hospital Erlangen Friedrich\u2010Alexander University Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1291-4219","authenticated-orcid":false,"given":"Christoph Stephan","family":"Clemen","sequence":"additional","affiliation":[{"name":"German Aerospace Center Institute of Aerospace Medicine  Cologne Germany"},{"name":"Center for Physiology and Pathophysiology, Institute of Vegetative Physiology, Medical Faculty University of Cologne  Cologne 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