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Category: Publications

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 […]

Alternative splicing coupled mRNA decay shapes the temperature-dependent transcriptome

Published December 2020 in EMBO Reports, in collaboration with Freie Universität Berlin. Mammalian body temperature oscillates with the time of the day and is altered in diverse pathological conditions. We recently identified a body temperature-sensitive thermometer-like kinase, which alters SR protein phosphorylation and thereby globally controls alternative splicing (AS). AS can generate unproductive variants which […]

Immunity-related GTPase induces lipophagy to prevent excess hepatic lipid accumulation

Published October 2020 in Journal of Hepatology, in collaboration with the German Institute of Human Nutrition. The genetic basis of non-alcoholic fatty liver disease remains incompletely defined. Herein, we identified members of the immunity-related GTPase family in mice and humans that act as regulators of hepatic fat accumulation, with links to autophagy. Overexpression of the […]

The zinc finger domains in U2AF26 and U2AF35 have diverse functionalities including a role in controlling translation

Published June 2019 in RNA Biology, in collaboration with Freie Universität Berlin. Recent work has associated point mutations in both zinc fingers (ZnF) of the spliceosome component U2AF35 with malignant transformation. However, surprisingly little is known about the functionality of the U2AF35 ZnF domains in general. Here we have analysed key functionalities of the ZnF […]

Srsf10 and the minor spliceosome control tissue-specific and dynamic SR protein expression

Published April 2020 in Elife, in collaboration with Freie Universität Berlin. Minor and major spliceosomes control splicing of distinct intron types and are thought to act largely independent of one another. SR proteins are essential splicing regulators mostly connected to the major spliceosome. Here, we show that Srsf10 expression is controlled through an autoregulated minor intron, tightly […]