Publications by authors named "Sabrina Oeser"
Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene () that lead to deficiency of GCDH protein. Without treatment, this enzyme defect causes a neurological phenotype characterized by movement disorder and cognitive impairment. Based on a comprehensive literature search, we established a large dataset of variants using the Leiden Open Variation Database (LOVD) to summarize the known genotypes and the clinical and biochemical phenotypes associated with GA-1.
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- Cyanobacteria produce type IV pili, critical for movement, attachment, and natural transformation; the main component is the major pilin PilA1, with additional minor pilins present.
- The study found that the minor pilin PilA5 is crucial for natural transformation but not for movement or clumping, while other minor pilins from the pilA9-slr2019 unit are essential for motility but not for transformation.
- Gene expression analysis revealed that the levels of minor pilin genes change when the bacteria come into contact with surfaces, indicating their role in different pilus functions and the potential for forming aggregated structures.
Motile strains of the unicellular cyanobacterium sp. strain PCC 6803 readily aggregate into flocs, or floating multicellular assemblages, when grown in liquid culture. As described here, we used confocal imaging to probe the structure of these flocs, and we developed a quantitative assay for floc formation based on fluorescence imaging of 6-well plates.
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