Nature communications

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=37993462&retmode=xml&tool=Litmetric&email=readroberts32@gmail.com&api_key=61f08fa0b96a73de8c900d749fcb997acc09 379934622023112720231127

2041-17231412023Nov22Nature communicationsNat CommunCommon transthyretin-derived amyloid fibril structures in patients with hereditary ATTR amyloidosis.76237623762310.1038/s41467-023-43301-3Systemic ATTR amyloidosis is an increasingly important protein misfolding disease that is provoked by the formation of amyloid fibrils from transthyretin protein. The pathological and clinical disease manifestations and the number of pathogenic mutational changes in transthyretin are highly diverse, raising the question whether the different mutations may lead to different fibril morphologies. Using cryo-electron microscopy, however, we show here that the fibril structure is remarkably similar in patients that are affected by different mutations. Our data suggest that the circumstances under which these fibrils are formed and deposited inside the body - and not only the fibril morphology - are crucial for defining the phenotypic variability in many patients.© 2023. The Author(s).SteinebreiMaximilianM0000-0002-0582-3909Institute of Protein Biochemistry, Ulm University, Helmholtzstrasse 8/1, Ulm, D-89081, Germany. maximilian.steinebrei@uni-ulm.de.BaurJulianJInstitute of Protein Biochemistry, Ulm University, Helmholtzstrasse 8/1, Ulm, D-89081, Germany.PradhanAnavigghaAInstitute of Protein Biochemistry, Ulm University, Helmholtzstrasse 8/1, Ulm, D-89081, Germany.KupferNiklasNInstitute of Protein Biochemistry, Ulm University, Helmholtzstrasse 8/1, Ulm, D-89081, Germany.WieseSebastianS0000-0001-5697-2608Core Unit Mass Spectrometry and Proteomics, Medical Faculty, Ulm University, Ulm, D-89081, Germany.HegenbartUteU0000-0003-1917-6746Medical Department V, Amyloidosis Center, Heidelberg, University Hospital Heidelberg, Im Neuenheimer Feld 400, Heidelberg, D-69120, Germany.SchönlandStefan OSO0000-0002-4853-5579Medical Department V, Amyloidosis Center, Heidelberg, University Hospital Heidelberg, Im Neuenheimer Feld 400, Heidelberg, D-69120, Germany.SchmidtMatthiasM0000-0002-9442-460XInstitute of Protein Biochemistry, Ulm University, Helmholtzstrasse 8/1, Ulm, D-89081, Germany.FändrichMarcusM0000-0003-2123-6816Institute of Protein Biochemistry, Ulm University, Helmholtzstrasse 8/1, Ulm, D-89081, Germany.engJournal Article20231122

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