ArticleCell2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
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Article in Cell, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers.
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20 citing papers in PubMed.
- Statins and Myasthenia Gravis: Clinical Implications and Pathogenesis.International journal of molecular sciences · 2026Review
- From Isoprene Units to Polyprenols and Dolichols: 70 Years of Polyisoprenoid Biosynthesis Research.Cell biochemistry and biophysics · 2026Review
- APOE genotypes differentially remodel the astrocytic lipid droplet proteome to shape lipid droplet dynamics.Nature communications · 2026Article
- Transcriptome, glycome, and mucinome analysis reveal zinc is essential for the composition of mucus in the human goblet cell model HT-29-MTX.Scientific reports · 2026Article
- SARS-CoV-2 Infection-Induced Alterations in ADAR Editing Patterns Differ Between Patients Who Developed Critical Compared to Non-Critical COVID-19.International journal of molecular sciences · 2026Article
- Repurposing the HMG-CoA reductase inhibitor atorvastatin for SRD5A3-congenital disorder of glycosylation.Communications medicine · 2026Article
- Mysterious giants in the world of lipids: long linear isoprenoid functions in plant physiology and reproduction.Journal of experimental botany · 2026Review
- The revised three-step detour pathway in dolichol biosynthesis is evolutionarily conserved in budding yeast.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Impaired glycosylation promotes rapid transition to hepatocellular carcinoma in model of diet-induced steatotic liver disease.The Journal of clinical investigation · 2026Article
- Sex-specific multigenerational epigenetic responses to real-world chemical mixture exposure in an outbred sheep model.bioRxiv : the preprint server for biology · 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
- Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.Genes · 2026Article
- Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDG.bioRxiv : the preprint server for biology · 2026Article
- Emerging Insights into Protein Post-Translational Modifications in Chlamydia-Host Interactions.The American journal of pathology · 2025Review
- CSF2RA promotes gastric cancer progression through activation of the JAK2/STAT3 signaling pathway.Journal of molecular histology · 2025Article
- Is dolichol pathway dysfunction a significant factor in Alzheimer's disease?Inflammopharmacology · 2025Review
- Dhdds T206A and Dhdds K42E knock-in mouse models of retinitis pigmentosa 59 are phenotypically similar.Disease models & mechanisms · 2025Article
- Rare biochemical & genetic conditions: clues for broader mechanistic insights.Cellular and molecular life sciences : CMLS · 2025Review
- N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.Glycobiology · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
24 authors.
Matthew P WilsonLaboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium.
Takfarinas KentacheMetabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium.
Charlotte R AlthoffLaboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium; Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France.
Céline SchulzUniv. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France.
Geoffroy de BettigniesUniv. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France.
Gisèle Mateu CabreraLaboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium.
Loreta CimbalistieneInstitute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Birute BurnyteInstitute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Grace YoonDivision of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada; Division of Neurology, Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.
Gregory CostainDivision of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Sandrine Vuillaumier-BarrotAP-HP, Biochimie Métabolique et Cellulaire and Département de Génétique, Hôpital Bichat-Claude Bernard, and Université de Paris, Faculté de Médecine Xavier Bichat, INSERM U1149, CRI, Paris, France.
David CheillanService Biochimie et Biologie Moléculaire - Hospices Civils de Lyon; Laboratoire Carmen - Inserm U1060, INRAE UMR1397, Université Claude Bernard Lyon 1, Lyon, France.
Daisy RymenDepartment of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium.
Lucie RychtarovaLaboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czechia.
Hana HansikovaLaboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czechia.
Marina BuryMetabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium.
Joseph P DewulfMetabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium.
Francesco CaligioreMetabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium.
Jaak JaekenDepartment of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium.
Vincent CantagrelDevelopmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, France.
Emile Van SchaftingenMetabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium. Electronic address: emile.vanschaftingen@uclouvain.be.
Gert MatthijsLaboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium. Electronic address: gert.matthijs@kuleuven.be.
François FoulquierUniv. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France. Electronic address: francois.foulquier@univ-lille.fr.
Guido T BommerMetabolic Research Group, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium. Electronic address: guido.bommer@uclouvain.be.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 metabolites, where SRD5A3 catalyzes only the second reaction. The first and third steps are performed by DHRSX, whose gene resides on the pseudoautosomal regions of the X and Y chromosomes. Accordingly, we report a pseudoautosomal-recessive disease presenting as a congenital disorder of glycosylation in patients with missense variants in DHRSX (DHRSX-CDG). Of note, DHRSX has a unique dual substrate and cofactor specificity, allowing it to act as a NAD
Indexed as
Dolichols3-Oxo-5-alpha-Steroid 4-DehydrogenaseCongenital Disorders of GlycosylationFemaleGlycosylationHumansMaleMembrane ProteinsMutation, Missense3-Oxo-5-alpha-Steroid 4-DehydrogenaseDolicholsMembrane ProteinsSRD5A3 protein, humancongenital disorders of glycosylationdolichaldolichollipid dropletsN-glycosylationpolyisoprenoidspolyprenalpolyprenolpseudoautosomal region
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