A5061489347- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Autophagy in Disease and Therapy
- Genomics and Rare Diseases
- Adipokines, Inflammation, and Metabolic Diseases
- Hippo pathway signaling and YAP/TAZ
- RNA Research and Splicing
- Congenital heart defects research
- Glycosylation and Glycoproteins Research
- Cancer Genomics and Diagnostics
- Regulation of Appetite and Obesity
- Genetic diversity and population structure
- CRISPR and Genetic Engineering
- Single-cell and spatial transcriptomics
- Neuropeptides and Animal Physiology
- Epilepsy research and treatment
- Sarcoma Diagnosis and Treatment
- RNA regulation and disease
- Genetic and phenotypic traits in livestock
- Molecular Biology Techniques and Applications
- Metabolism, Diabetes, and Cancer
- Calpain Protease Function and Regulation
- Studies on Chitinases and Chitosanases
- PI3K/AKT/mTOR signaling in cancer
- Marine animal studies overview
Leipzig University
2021-2025
Max Planck Institute for Evolutionary Anthropology
2020-2023
Obesity is one of the diseases with severe health consequences and rapidly increasing worldwide prevalence. Understanding complex network food intake energy balance regulation an essential prerequisite for pharmacological intervention obesity. G protein-coupled receptors (GPCRs) are among main modulators metabolism balance. They, instance, regulate appetite satiety in certain hypothalamic neurons, as well glucose lipid hormone secretion from adipocytes. Mutations some GPCRs, such...
Pathogenic variants in WDFY3, a gene encoding for an autophagy adaptor termed ALFY, are linked to neurodevelopmental delay and altered brain size human probands. While the role of WDFY3 loss-of-function is extensively studied neurons, little known about effects upregulation different cell types central nervous system (CNS). We show that overexpression Drosophila melanogaster ortholog, Bchs, either glia or neurons impaired locomotion. Bchs glial also increased VNC nuclei number significantly,...
Elucidation of lipid metabolism and accumulation mechanisms is paramount importance to understanding obesity unveiling therapeutic targets. In vitro cell models have been extensively used for these purposes, yet, they do not entirely reflect the in vivo setup. Conventional lipomas, characterized by presence mature adipocytes increased adipogenesis, could overcome drawbacks cultures. Also, unique advantage easily accessible matched controls form subcutaneous adipose tissue (SAT) from same...
Steller’s sea cow, an extinct sirenian and one of the largest Quaternary mammals, was described by Georg Steller in 1741 eradicated humans within 27 years. Here, we complement descriptions with paleogenomic data from 12 individuals. We identified convergent evolution between cow cetaceans but not extant sirenians, suggesting a role several genes adaptation to cold aquatic (or marine) environments. Among these are inactivations lipoxygenase genes, which mouse models cause ichthyosis, skin...
Abstract Background RNA-seq emerges as a valuable method for clinical genetics. The transcriptome is “dynamic” and tissue-specific, but typically the probed tissues to analyze (TA) are different from tissue of interest (TI) based on pathophysiology. Results We developed Phenotype-Tissue Expression Exploration (PTEE), tool facilitate decision about most suitable TA RNA-seq. integrated phenotype-annotated genes, used 54 GTEx perform correlation analyses identify expressed genes transcripts...
Phospholipid scramblase 4 (PLSCR4) is a member of conserved enzyme family with high relevance for the remodeling phospholipid distribution in plasma membrane and regulation cellular signaling. While PLSCR1 -3 are involved adipose-tissue expansion, role PLSCR4 so far unknown. significantly downregulated an adipose-progenitor-cell model deficiency phosphatase tensin homolog (PTEN). PTEN acts as tumor suppressor antagonist growth survival signaling phosphoinositide 3-kinase (PI3K)/AKT cascade...
Previous studies suggested that severe epilepsies e.g., developmental and epileptic encephalopathies (DEE) are mainly caused by ultra-rare de novo genetic variants. For milder phenotypes, rare variants could contribute to the phenotype. To determine importance of for different epilepsy types, we analyzed a whole-exome sequencing cohort 9,170 epilepsy-affected individuals 8,436 controls. Here, separately three groups : DEEs, generalized (GGE), non-acquired focal (NAFE). We required qualifying...
Abstract The 15q13.3 microdeletion has pleiotropic effects ranging from apparently healthy to severely affected individuals. underlying basis of the variable phenotype remains elusive. We analyzed gene expression using blood three individuals with and brain cortex tissue ten mice Df[h15q13]/+. assessed differentially expressed genes (DEGs), protein–protein interaction (PPI) functional modules, in developmental stages. deleted genes’ haploinsufficiency was not transcriptionally compensated,...
The precise and rapid construction of alleles through CRISPR/Cas9-mediated genome engineering renders Drosophila melanogaster a powerful animal system for molecular structure-function analyses human disease models. Application the ovoD co-selection method offers expedited generation enrichment scarlessly edited without need linked transformation markers, which specifically in case exon editing can impact allele usability. However, we found that knockin procedures by homology-directed repair...
Background and Aim Vaspin (visceral adipose tissue derived serine protease inhibitor) is associated with metabolic traits related to obesity, but its causative role still elusive. We investigated the of genetics in serum vaspin variability establish direct relationship metabolically relevant traits.
Abstract The autophagy adaptor WDFY3 is linked to neurodevelopmental delay and altered brain size. Loss-of-function variants are associated with an increased size in both humans mice. We thus, hypothesized that the microcephaly observed some of patients may be related a gain-of-function gene product. While role loss-of-function has been studied extensively neurons, little known about effects overexpression different neural cell types. utilized Drosophila melanogaster model investigate effect...
Abstract Background The 15q13.3 microdeletion has pleiotropic effects ranging from apparently healthy to severely affected individuals. underlying basis of the variable phenotype remains elusive. Methods We analyzed gene expression using blood 3 individuals with and brain cortex tissue 10 mice Df[h15q13]/+. assessed differentially expressed genes (DEGs), protein-protein interaction (PPI) functional modules, in developmental stages. Results deleted genes’ haploinsufficiency was not...