{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kuhlwein JK"],"funding":["Deutsche Forschungsgemeinschaft","Deutsches Zentrum für Neurodegenerative Erkrankungen e.V. (DZNE) in der Helmholtz-Gemeinschaft"],"pagination":["131"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10126052"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["80(5)"],"pubmed_abstract":["Amyotrophic Lateral Sclerosis (ALS) is a complex and incurable neurodegenerative disorder in which genetic and epigenetic factors contribute to the pathogenesis of all forms of ALS. The interplay of genetic predisposition and environmental footprints generates epigenetic signatures in the cells of affected tissues, which then alter transcriptional programs. Epigenetic modifications that arise from genetic predisposition and systemic environmental footprints should in theory be detectable not only in affected CNS tissue but also in the periphery. Here, we identify an ALS-associated epigenetic signature ('epiChromALS') by chromatin accessibility analysis of blood cells of ALS patients. In contrast to the blood transcriptome signature, epiChromALS includes also genes that are not expressed in"],"journal":["Cellular and molecular life sciences : CMLS"],"pubmed_title":["ALS is imprinted in the chromatin accessibility of blood cells."],"pmcid":["PMC10126052"],"funding_grant_id":["DA 1657/2-1"],"pubmed_authors":["Ludolph AC","Weishaupt JH","Danzer KM","Ekici AB","Kuhlwein JK","Mulaw MA","Kandler K","Ruf WP","Lang C","Grozdanov V","Witzel S"],"additional_accession":[]},"is_claimable":false,"name":"ALS is imprinted in the chromatin accessibility of blood cells.","description":"Amyotrophic Lateral Sclerosis (ALS) is a complex and incurable neurodegenerative disorder in which genetic and epigenetic factors contribute to the pathogenesis of all forms of ALS. The interplay of genetic predisposition and environmental footprints generates epigenetic signatures in the cells of affected tissues, which then alter transcriptional programs. Epigenetic modifications that arise from genetic predisposition and systemic environmental footprints should in theory be detectable not only in affected CNS tissue but also in the periphery. Here, we identify an ALS-associated epigenetic signature ('epiChromALS') by chromatin accessibility analysis of blood cells of ALS patients. In contrast to the blood transcriptome signature, epiChromALS includes also genes that are not expressed in","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Apr","modification":"2025-04-04T22:59:19.732Z","creation":"2024-11-13T09:21:34.599Z"},"accession":"S-EPMC10126052","cross_references":{"pubmed":["37095391"],"doi":["10.1007/s00018-023-04769-w"]}}