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

Da Silva A., Tene Tadoum SB., Muffels IJJ., Budhraja R., Sturiale L., Messina A., Giladi M., Taherzadeh M., Fazeli M., Bonneil É., Khan S., te Vruchte D., Yamanaka Y., Di Cristo G., Hamdan FF., Platt FM., Tomatsu S., Haitin Y., Kozicz T., Thibault P., Garozzo D., Pandey A., Morava E., Rossignol E., Pshezhetsky AV.

DOI

10.1101/2025.08.15.670547

Type

Preprint

Publication Date

2025-08-21T00:00:00+00:00

Permalink More information Close