ArticleJournal of lipid research2013
Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis.
Article in Journal of lipid research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 41 citations in OpenAlex.
- Biomarkers of NAFLD progression: a lipidomics approach to an epidemic.Journal of lipid research · 2015Trial
- From Isoprene Units to Polyprenols and Dolichols: 70 Years of Polyisoprenoid Biosynthesis Research.Cell biochemistry and biophysics · 2026Review
- Impaired glycosylation promotes rapid transition to hepatocellular carcinoma in model of diet-induced steatotic liver disease.The Journal of clinical investigation · 2026Article
- Article
- Characterization of age-related dolichol increases in the retina of the C57BL/6 mouse.Scientific reports · 2025Article
- Dhdds T206A and Dhdds K42E knock-in mouse models of retinitis pigmentosa 59 are phenotypically similar.Disease models & mechanisms · 2025Article
- Noninvasive Urinary Biomarkers for Obesity-Related Metabolic Diseases: Diagnostic Applications and Future Directions.Biomolecules · 2025Review
- Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.International journal of molecular sciences · 2025Article
- Loss of cis-PTase function in the liver promotes a highly penetrant form of fatty liver disease that rapidly transitions to hepatocellular carcinoma.bioRxiv : the preprint server for biology · 2023Article
- A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission.Cell death & disease · 2023Article
- Perspectives on Retinal Dolichol Metabolism, and Visual Deficits in Dolichol Metabolism-Associated Inherited Disorders.Advances in experimental medicine and biology · 2023Review
- Vertebrate Animal Models of RP59: Current Status and Future Prospects.International journal of molecular sciences · 2022Review
- Structural basis for long-chain isoprenoid synthesis byScience advances · 2022Article
- De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.Brain : a journal of neurology · 2022Article
- Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.Nature communications · 2020Article
- Structural elucidation of theProceedings of the National Academy of Sciences of the United States of America · 2020Article
- Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation.iScience · 2020Article
- Lack of Overt Retinal Degeneration in a K42ECells · 2020Article
- A2E Distribution in RPE Granules in Human Eyes.Molecules (Basel, Switzerland) · 2020Article
- Quantifying lipofuscin in retinal pigment epithelium in vivo by visible-light optical coherence tomography-based multimodal imaging.Scientific reports · 2020Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry. Dolichol-18 (D18) became the dominant dolichol species in patients instead of dolichol-19 (D19) in normal individuals. The D18/D19 ratio was calculated and used as an index of dolichol length distribution. K42E/K42E and K42E/T206A patients have significantly higher plasma and urinary D18/D19 ratios than K42E and T206A carriers. The ratios of carriers are significantly higher than normal individuals. Receiver operating characteristic (ROC) analysis shows that plasma and urinary D18/D19 ratios can unambiguously discriminate patients from carriers, and carriers from normal individuals. Dolichol analysis also provides evidence that the T206A mutation is RP-causative. The methodologies and procedures used for dolichol profiling are reliable, high throughput, and cost effective. Dolichol profiling, complementary to genotyping, can be readily adapted as a test in the clinic not only for the diagnosis of patients but also for identification of carriers with DHDDS or other genetic mutations that may impair dolichol biosynthesis.
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Registered trials
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