Author

J. Aerts

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Review Open access Aug 2026

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders

Lysosomal disorders (LDs) have traditionally been defined by intra‐lysosomal substrate accumulation resulting from deficiencies of lysosomal enzymes or associated proteins. Advances in lysosomal biology have demonstrated that lysosomes function as central regulators of cellular signalling, membrane trafficking, autopha...

Eamon P. McCarron, N. Blau, E. R. Eden et al. · Journal of Inherited Metabol... · 0 citations

Open access Aug 2026

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl-Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies.

The molecular mechanism of human A4GALT is revealed at atomic detail using QM/MM simulations, revealing a conformational rearrangement involving a 310-helix that stabilizes the donor substrate and promotes a front-face SNi-like catalytic mechanism, in which a short-lived oxocarbenium-ion intermediate forms.

Nicky de Koster, Òscar Vidal-Gironès, Rowan de Graaf et al. · Angewandte Chemie · 0 citations