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UnknownLife with too much polyprenol: polyprenol reductase deficiency.
Not available
S-EPMC3428379 | biostudies-literature
UnknownSRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Not available
S-EPMC2940322 | biostudies-literature
ProteomicsAbsence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells
Glycosylation-deficient Chinese hamster ovary (CHO) cell lines have been instrumental in the discovery of N-glycosylation machinery. Yet, the molecular causes of the glycosylation defects in the Lec5 and Lec9 mutants have been elusive, even though for both cell lines a defect in dolichol formation f...
ORGANISM(S): Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) 
2024-10-14 | PXD052706 | Pride
Congenital disorders of glycosylation Lec9 Dhrsx N-glycosylation Dolichal Polyprenal Lec5 Polyprenol Dolichol 
UnknownSubcellular localization of the five members of the human steroid 5α-reductase family.
Not available
S-EPMC5656259 | biostudies-literature
ProteomicsExtensive hypoglycosylation of serum N-glycoproteins in SRD5A3 deficiency
Polyprenol reductase is an enzyme encoded by the SRD5A3 gene, which catalyzes the synthesis of dolichol from polyprenols. Dolichol serves as a carrier for glycan precursors in N-linked glycosylation or monosaccharides in O-glycosylation, C-mannosylation, and GPI anchor biosynthesis. Pathogenic varia...
ORGANISM(S): Homo sapiens (Human) 
2026-06-08 | PXD053534 | Pride
Srd5a3-cdg Glycosylation Rare diseases Orbitrap eclipse tribrid Polyprenol reductase Type 1 cdg Complex glycans 
ProteomicsA pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Dolichol is a lipid critical for N-glycosylation as a carrier for activated sugars and nascent oligosaccharides. It is commonly thought to be directly produced from polyprenol by the enzyme SRD5A3. Instead, we found that dolichol synthesis requires a three-step detour involving additional metabolite...
ORGANISM(S): Homo sapiens (Human) 
2024-06-12 | PXD049174 | Pride
Lipid droplets Congenital disorders of glycosylation Polyprenal N-glycosylation Dolichal Pseudoautosomal region Dolichol Polyprenol 
UnknownThe N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene.
Not available
S-EPMC11212957 | biostudies-literature
UnknownAbsence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.
Not available
S-EPMC11607601 | biostudies-literature
UnknownA pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Not available
S-EPMC11250103 | biostudies-literature
UnknownNext generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Not available
S-EPMC3039499 | biostudies-literature
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