Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically
heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved …

Background Variants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear
undecaprenyl pyrophosphate synthase 1 (NUS1) cause a neurodevelopmental disorder …

Purpose Variants in NUS1 are associated with a congenital disorder of glycosylation,
developmental and epileptic encephalopathies, and are possible contributors to Parkinson …

Subcellular membrane systems are highly enriched in dolichol, whose role in organelle
homeostasis and endosomal-lysosomal pathway remains largely unclear besides being …

Hepatic steatosis, characterized by excessive lipid accumulation, is one of the common liver
diseases. Neurite Outgrowth Inhibitor B Receptor (NgBR) regulates the lipid metabolism …

Natural rubber of the Para rubber tree (Hevea brasiliensis) is synthesized as a result of
prenyltransferase activity. The proteins HRT1, HRT2, and HRBP have been identified as …

Isoprenoids are synthesized by the prenyltransferase superfamily, which is subdivided
according to the product stereoisomerism and length. In short-and medium-chain …

NUS1 encodes the Nogo-B receptor, a critical regulator for unfolded protein reaction (UPR)
signaling. Although several loss-of-function variants of NUS1 have been identified in …

Eukaryotic dehydrodolichyl diphosphate synthases (DHDDSs), cis‐prenyltransferases (cis‐
PTs) synthesizing precursors of dolichols to mediate glycoprotein biosynthesis require …

Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder
manifesting as progressive myoclonus, seizure, and ataxia. We report a case of PME caused …