ArticleMolecular genetics and metabolism2012
Life with too much polyprenol: polyprenol reductase deficiency.
Article in Molecular genetics and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 52 citations in OpenAlex.
- From Isoprene Units to Polyprenols and Dolichols: 70 Years of Polyisoprenoid Biosynthesis Research.Cell biochemistry and biophysics · 2026Review
- Repurposing the HMG-CoA reductase inhibitor atorvastatin for SRD5A3-congenital disorder of glycosylation.Communications medicine · 2026Article
- Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency.Journal of inherited metabolic disease · 2026Article
- Evolutionary divergence and functional insights into the heteromeric cis-prenyltransferase of Paramecium tetraurelia.The FEBS journal · 2026Article
- N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.Glycobiology · 2024Article
- Article
- The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene.bioRxiv : the preprint server for biology · 2024Article
- Quantification of Dolichyl Phosphates Using Phosphate Methylation and Reverse-Phase Liquid Chromatography-High Resolution Mass Spectrometry.Analytical chemistry · 2023Article
- Perspectives on Retinal Dolichol Metabolism, and Visual Deficits in Dolichol Metabolism-Associated Inherited Disorders.Advances in experimental medicine and biology · 2023Review
- Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.Frontiers in genetics · 2021Article
- SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.Frontiers in genetics · 2021Article
- Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).Orphanet journal of rare diseases · 2020Article
- Metabolomics profiling reveals new aspects of dolichol biosynthesis in Plasmodium falciparum.Scientific reports · 2020Article
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- Identification of a case ofThe Indian journal of medical research · 2018Article
- Limitations of galactose therapy in phosphoglucomutase 1 deficiency.Molecular genetics and metabolism reports · 2017Article
- SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.American journal of medical genetics. Part A · 2016Article
- A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.Orphanet journal of rare diseases · 2016Article
- Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.JIMD reports · 2016Article
- News on Clinical Details and Treatment in PGM1-CDG.JIMD reports · 2016Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
Abstract
Congenital disorders of glycosylation (CDG) are caused by a dysfunction of glycosylation, an essential step in the manufacturing process of glycoproteins. This paper focuses on a 6-year-old patient with a new type of CDG-I caused by a defect of the steroid 5α reductase type 3 gene (SRD5A3). The clinical features were psychomotor retardation, pathological nystagmus, slight muscular hypotonia and microcephaly. SRD5A3 was recently identified encoding the polyprenol reductase, an enzyme catalyzing the final step of the biosynthesis of dolichol, which is required for the assembly of the glycans needed for N-glycosylation. Although an early homozygous stop-codon (c.57G>A [W19X]) with no functional protein was found in the patient, about 70% of transferrin (Tf) was correctly glycosylated. Quantification of dolichol and unreduced polyprenol in the patient's fibroblasts demonstrated a high polyprenol/dolichol ratio with normal amounts of dolichol, indicating that high polyprenol levels might compete with dolichol for the initiation of N-glycan assembly but without supporting normal glycosylation and that there must be an alternative pathway for dolichol biosynthesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.