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Author

G. Di Cristo

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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
Open access Jul 2026

Sensory experience and mTORC1 interplay orchestrates the maturation of cortical interneuron connectivity and tactile sensitivity

It is demonstrated that mTORC1 dysregulation in parvalbumin-expressing (PV) interneurons drives heightened tactile exploration and defensiveness in adult mutant mice, and the interplay between mTORC1 signaling and sensory experience in PV cells regulates their connectivity, and contributes to the proper development of...

Clara A. Amegandjin, M. Carreno-Munoz, Ruggiero Francavilla et al. · 0 citations

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