Author

M. Mülleder

2 papers indexed here

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Sep 2026

Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.

Despite the introduction of genome sequencing (GS) for rare disease diagnostics, a genetic cause is not identified in most patients. Here, we explored the potential of proteomics to improve the diagnostic yield in 424 patients with rare diseases from the 100,000 Genomes Project (100kGP) without a genetic diagnosis. Ser...

J. Carrasco-Zanini, J. Andrade, M. Pietzner et al. · Science Translational Medici... · 0 citations

Jul 2026

Metabolic adaptation enabling D-xylose assimilation via the Entner-Doudoroff pathway in glycolysis-impaired Escherichia coli strains.

This study revealed that mutations in key enzymes and transcriptional regulators at various metabolic branching points were essential for effective growth on D-xylose, enabling optimized partitioning of carbon through central metabolism despite the loss of the canonical EMP glycolytic route.

C. Iacometti, Valérie A. Delmas, Mélodie Cadillon et al. · Metabolic Engineering · 0 citations