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000257780 1001_ $$0P:(DE-2719)9001523$$aKühlwein, Julia$$b0$$udzne
000257780 245__ $$aALS is imprinted in the chromatin accessibility of blood cells.
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000257780 520__ $$aAmyotrophic 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 blood cells; it is enriched in CNS neuronal pathways and it is present in the ALS motor cortex. By combining simultaneous ATAC-seq and RNA-seq with single-cell sequencing in PBMCs and motor cortex from ALS patients, we demonstrate that epigenetic changes associated with the neurodegenerative disease can be found in the periphery, thus strongly suggesting a mechanistic link between the epigenetic regulation and disease pathogenesis.
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000257780 650_7 $$2Other$$aChromatin remodeling
000257780 650_7 $$2Other$$aEpigenome
000257780 650_7 $$2Other$$aIntegrated analysis
000257780 650_7 $$2Other$$aMotor neuron disease
000257780 650_7 $$2Other$$aRegulatory elements
000257780 650_7 $$2Other$$aSingle-nuclei sequencing
000257780 650_7 $$2NLM Chemicals$$aChromatin
000257780 650_2 $$2MeSH$$aHumans
000257780 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: metabolism
000257780 650_2 $$2MeSH$$aEpigenesis, Genetic
000257780 650_2 $$2MeSH$$aChromatin
000257780 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000257780 650_2 $$2MeSH$$aNeurodegenerative Diseases: genetics
000257780 650_2 $$2MeSH$$aBlood Cells: metabolism
000257780 650_2 $$2MeSH$$aBlood Cells: pathology
000257780 7001_ $$0P:(DE-2719)9001522$$aRuf, Wolfgang$$b1$$udzne
000257780 7001_ $$aKandler, Katharina$$b2
000257780 7001_ $$0P:(DE-2719)9001976$$aWitzel, Simon$$b3$$udzne
000257780 7001_ $$0P:(DE-2719)9002237$$aLang, Christina$$b4$$udzne
000257780 7001_ $$aMulaw, Medhanie A$$b5
000257780 7001_ $$aEkici, Arif B$$b6
000257780 7001_ $$0P:(DE-2719)9000455$$aWeishaupt, Jochen H$$b7$$udzne
000257780 7001_ $$0P:(DE-2719)2812633$$aLudolph, Albert C$$b8$$udzne
000257780 7001_ $$0P:(DE-2719)9001519$$aGrozdanov, Veselin$$b9$$udzne
000257780 7001_ $$0P:(DE-2719)9001513$$aDanzer, Karin M$$b10$$eLast author$$udzne
000257780 773__ $$0PERI:(DE-600)1458497-9$$a10.1007/s00018-023-04769-w$$gVol. 80, no. 5, p. 131$$n5$$p131$$tCellular and molecular life sciences$$v80$$x1420-682X$$y2023
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