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Category: Publications

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 June 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 […]

Enzymatically amplified linear dbDNA as a rapid and scalable solution to industrial lentiviral vector manufacturing

Published May 2022 in Gene Therapy, in collaboration with Touchlight Genetics. Traditional bacterial fermentation techniques used to manufacture plasmid are time-consuming, expensive, and inherently unstable. The production of sufficient GMP grade material thus imposes a major bottleneck on industrial-scale manufacturing of lentiviral vectors (LVV). Touchlight’s linear doggybone DNA (dbDNATM) is an enzymatically amplified DNA vector […]

Enriched Alternative Splicing in Islets of Diabetes-Susceptible Mice

Published August 2021 in the International Journal of Molecular Sciences, in collaboration with the German Institute of Human Nutrition. Dysfunctional islets of Langerhans are a hallmark of type 2 diabetes (T2D). We hypothesize that differences in islet gene expression alternative splicing which can contribute to altered protein function also participate in islet dysfunction. RNA sequencing […]

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Published January 2021 in Neuron, in collaboration with Rady Children’s Institute for Genomic Medicine (San Diego). Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving pontocerebellar hypoplasia with microcephaly (PCHM). Patients harbored biallelic mutations […]