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UnknownSRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
Not available
S-EPMC8671882 | biostudies-literature
UnknownAdult phenotype and further phenotypic variability in SRD5A3-CDG.
Not available
S-EPMC3898029 | biostudies-literature
UnknownA rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report.
Not available
S-EPMC9684675 | 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 
TranscriptomicsTranscriptomic analysis of the developing cerebellum in a mouse model for SRD5A3-CDG
We generated Srd5a3 cKO mouse in the cerebellum. To analyze the impact of the genetic defect in the mouse transcriptome, we extracted the RNA from the P7 cerebellum in 4 control and 4 mutant mice, from three different litters.
ORGANISM(S): Mus musculus 
2018-06-24 | E-MTAB-6861 | biostudies-arrayexpress
ProteomicsGlycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts
SRD5A3-CDG is a congenital disorder of glycosylation (CDG) resulting from pathogenic variants in SRD5A3 and follows an autosomal recessive inheritance pattern. The enzyme encoded by SRD5A3, polyprenal reductase, plays a crucial role in synthesizing lipid precursors essential for N-linked glycosylati...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD055397 | Pride
Dolichol Lipid-linked oligosaccharide Cdg type i N-glycosylation Polyprenol 
UnknownN-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.
Not available
S-EPMC7617596 | biostudies-literature
UnknownAbnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.
Not available
S-EPMC10108535 | 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
UnknownLife with too much polyprenol: polyprenol reductase deficiency.
Not available
S-EPMC3428379 | biostudies-literature
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