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Author

Frances M. Platt

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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. · 0 citations
Open access Sep 2026

Mice with the mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits

The results define cis-PTase as a master regulator of CNS development and function and establish that its monoallelic debilitating variants cause a novel congenital disorder of glycosylation associated with aberrant levels of neuronal proteins and lipids.

Afitz Da Silva, Merrick S. Fallah, Samuel Boris Tene Tadoum et al. · 0 citations

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