Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy

Afitz Da Silva(Centre Hospitalier Universitaire Sainte-Justine), Alexey V. Pshezhetsky(Centre Hospitalier Universitaire Sainte-Justine)
bioRxiv (Cold Spring Harbor Laboratory)
August 21, 2025
Cited by 0


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