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Category: Publications

NOCICEPTRA2.0 – A comprehensive ncRNA atlas of human native and iPSC-derived sensory neurons

Published November 2023 in iScience, in collaboration with Medical University Innsbruck Non-coding RNAs (ncRNAs) are pivotal in gene regulation during development and disease. MicroRNAs have been extensively studied in neurogenesis. However, limited knowledge exists about the developmental signatures of other ncRNA species in sensory neuron differentiation, and human dorsal root ganglia (DRG) ncRNA expression remains […]

An interactive resource of molecular signalling in the developing human haematopoietic stem cell niche

Accepted October 2023 in Development, in collaboration with University of Edinburgh. The emergence of definitive human haematopoietic stem cells (HSCs) during Carnegie Stages (CS) 14-17 in the aorta-gonad-mesonephros (AGM) region is a tightly regulated process. Previously, we conducted spatial transcriptomic analysis of the human AGM region at the end of this period (CS16/17) and identified […]

S-adenosylmethionine treatment affects histone methylation in prostate cancer cells

Accepted October 2023 in Gene, in collaboration with Heidelberg University. S-adenosylmethionine (SAM) represents a potent inhibitor of cancer cell proliferation, migration, and invasion in vitro. The underlying mechanisms remain elusive. Here, we examined, if treatment with SAM may cause alterations in the methylation of the histone marks H3K4me3 and H3K27me3, which are both known to […]

ASO targeting RBM3 temperature-controlled poison exon splicing prevents neurodegeneration in vivo

Published March 2023 in EMBO Molecular Medicine, in collaboration with Freie Universität Berlin and University of Cambridge. Neurodegenerative diseases are increasingly prevalent in the aging population, yet no disease-modifying treatments are currently available. Increasing the expression of the cold-shock protein RBM3 through therapeutic hypothermia is remarkably neuroprotective. However, systemic cooling poses a health risk, strongly […]

Regulation of 3′ splice site selection after step 1 of splicing by spliceosomal C* proteins

Published March 2023 in Science Advances, in collaboration with Freie Universität Berlin and the Lührmann group from MPI for Multidisciplinary Sciences Göttingen. Alternative precursor messenger RNA splicing is instrumental in expanding the proteome of higher eukaryotes, and changes in 3′ splice site (3’ss) usage contribute to human disease. We demonstrate by small interfering RNA–mediated knockdowns, […]

One pipeline to predict them all? On the prediction of alternative splicing from RNA-Seq data

Published February 2023 in Biochemical and Biophysical Research Communications, in collaboration with Freie Universität Berlin. RNA-Seq has become the standard approach to quantify and compare gene expression and alternative splicing in different conditions. In many cases the limiting factor is not the sequencing itself but the bioinformatic analysis. A variety of software tools exist that […]

Branch point strength controls species-specific CAMK2B alternative splicing and regulates LTP

Published December 2022 in Life Science Alliance, in collaboration with Freie Universität Berlin. Species-specific regulation and functionality of alternative splicing remained unknown to date. Calcium/calmodulin-dependent protein kinase IIβ (CaMKIIβ) is expressed in several splice variants and plays a key role in learning and memory. In the present study, we investigated and characterised several primate-specific CAMK2B splice isoforms. […]

Body temperature variation controls pre-mRNA processing and transcription of antiviral genes and SARS-CoV-2 replication

Published July 2022 in Nucleic Acids Research, in collaboration with Freie Universität Berlin. Antiviral innate immunity represents the first defense against invading viruses and is key to control viral infections, including SARS-CoV-2. Body temperature is an omnipresent variable but was neglected when addressing host defense mechanisms and susceptibility to SARS-CoV-2 infection. Here, we show that […]

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features

Published June 2022 in Genetics in Medicine, in collaboration with Charité Universitätsmedizin Berlin. We identified a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life (A1, A2, and A3), 2 are adults […]

Evaluating maternal exposure to an environmental per and polyfluoroalkyl substances (PFAS) mixture during pregnancy: Adverse maternal and fetoplacental effects in a New Zealand White (NZW) rabbit model

Published June 2022 in Science of the Total Environment, in collaboration with Duke University. Mixtures of per- and polyfluoroalkyl substances (PFAS) are often found in drinking water, and serum PFAS are detected in up to 99% of the population. However, very little is known about how exposure to mixtures of PFAS affects maternal and fetal […]