{"entity": "researcher", "timestamp": "2026-08-18T02:45:49.904Z", "family": "Bauer", "given": "Susanne", "initials": "S", "orcid": "0000-0003-4731-5002", "affiliations": ["Department of Biomedical and Clinical Sciences, Wallenberg Center for Molecular Medicine, Link\u00f6ping University, Link\u00f6ping, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/6b6d3b8355fa4f41b7015a8ffe8f398c.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/6b6d3b8355fa4f41b7015a8ffe8f398c"}}, "publications": [{"entity": "publication", "iuid": "db2cb53665f444ec82e2dad906899885", "links": {"self": {"href": "https://publications.scilifelab.se/publication/db2cb53665f444ec82e2dad906899885.json"}, "display": {"href": "https://publications.scilifelab.se/publication/db2cb53665f444ec82e2dad906899885"}}, "title": "Translatome profiling in fatal familial insomnia implicates TOR signaling in somatostatin neurons.", "authors": [{"family": "Bauer", "given": "Susanne", "initials": "S", "orcid": "0000-0003-4731-5002", "researcher": {"href": "https://publications.scilifelab.se/researcher/6b6d3b8355fa4f41b7015a8ffe8f398c.json"}}, {"family": "Dittrich", "given": "Lars", "initials": "L"}, {"family": "Kaczmarczyk", "given": "Lech", "initials": "L", "orcid": "0000-0003-2747-3134", "researcher": {"href": "https://publications.scilifelab.se/researcher/2b192685d0c2438497741e66bfc183c9.json"}}, {"family": "Schleif", "given": "Melvin", "initials": "M"}, {"family": "Benfeitas", "given": "Rui", "initials": "R"}, {"family": "Jackson", "given": "Walker S", "initials": "WS", "orcid": "0000-0002-3003-5509", "researcher": {"href": "https://publications.scilifelab.se/researcher/62f49c7978954d098514c5b1bfa9e34b.json"}}], "type": "journal article", "published": "2022-11-00", "journal": {"title": "Life Sci. Alliance", "issn": "2575-1077", "volume": "5", "issue": "11", "issn-l": "2575-1077"}, "abstract": "Selective neuronal vulnerability is common in neurodegenerative diseases but poorly understood. In genetic prion diseases, including fatal familial insomnia (FFI) and Creutzfeldt-Jakob disease (CJD), different mutations in the <i>Prnp<\/i> gene manifest as clinically and neuropathologically distinct diseases. Here we report with electroencephalography studies that theta waves are mildly increased in 21 mo old knock-in mice modeling FFI and CJD and that sleep is mildy affected in FFI mice. To define affected cell types, we analyzed cell type-specific translatomes from six neuron types of 9 mo old FFI and CJD mice. Somatostatin (SST) neurons responded the strongest in both diseases, with unexpectedly high overlap in genes and pathways. Functional analyses revealed up-regulation of neurodegenerative disease pathways and ribosome and mitochondria biogenesis, and down-regulation of synaptic function and small GTPase-mediated signaling in FFI, implicating down-regulation of mTOR signaling as the root of these changes. In contrast, responses in glutamatergic cerebellar neurons were disease-specific. The high similarity in SST neurons of FFI and CJD mice suggests that a common therapy may be beneficial for multiple genetic prion diseases.", "doi": "10.26508/lsa.202201530", "pmid": "36192034", "labels": {"Bioinformatics Support, Infrastructure and Training": "Collaborative", "Bioinformatics Support and Infrastructure": "Collaborative", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC9531780"}, {"db": "pii", "key": "5/11/e202201530"}], "notes": [], "created": "2022-11-09T15:50:48.068Z", "modified": "2024-01-16T13:48:34.558Z"}]}