Publications by authors named "E F Freier"

Bioproduction of plant-derived triterpenoids in recombinant microbes is receiving great attention to make these biologically active compounds industrially accessible as nutraceuticals, pharmaceutics, and cosmetic ingredients. So far, there is no direct method for detecting triterpenoids under physiological conditions on a cellular level, information yet highly relevant to rationalizing microbial engineering. Here, we show in a proof-of-concept study, that triterpenoids can be detected and monitored in living yeast cells by combining coherent anti-Stokes Raman scattering (CARS) and second-harmonic-generation (SHG) microscopy techniques.

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Objectives: Chloroquine (CQ) is an antimalarial drug with a growing number of applications as recently demonstrated in attempts to treat Covid-19. For decades, it has been well known that skeletal and cardiac muscle cells might display vulnerability against CQ exposure resulting in the clinical manifestation of a CQ-induced myopathy. In line with the known effect of CQ on inhibition of the lysosomal function and thus cellular protein clearance, the build-up of autophagic vacuoles along with protein aggregates is a histological hallmark of the disease.

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Cell-free biosynthesis is emerging as a very attractive alternative for the production of market-relevant molecules. The free combination of enzymes, regardless of where they are isolated from, raises the possibility to build more efficient synthetic routes but at the same time leads to higher complexity regarding the analysis of the different enzymatic steps. Here we present an analytical method for the real-time analysis of acyl-CoA blocks forming and consuming during multi-step catalyses.

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Vibrational spectroscopy can detect characteristic biomolecular signatures and thus has the potential to support diagnostics. Fabry disease (FD) is a lipid disorder disease that leads to accumulations of globotriaosylceramide in different organs, including the heart, which is particularly critical for the patient's prognosis. Effective treatment options are available if initiated at early disease stages, but many patients are late- or under-diagnosed.

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Article Synopsis
  • Recent research has identified congenital myasthenic syndromes (CMS) due to genetic variants that hinder acetylcholine (ACh) synthesis and recycling, specifically involving the vesicular ACh transporter (VAChT).
  • A study on a 5-year-old patient through exome sequencing revealed two harmful genetic variants, correlating with severe motor and cognitive deficits, and muscle biopsy showed abnormal fiber size and lipid accumulation.
  • The findings suggest that nonsense variants have a more negative impact on CMS symptoms, affecting muscle integrity and highlighting the critical role of VAChT in maintaining ACh levels and lipid balance in muscle cells.
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