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Author

Samuel Boris Tene Tadoum

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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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