Donate
img

Research

Research

  • 1. Wang, Z.-H., Zhang, Y.-Z., Wang, Y.-S. & Ma, X.-X. Identification of novel cell glycolysis related gene signature predicting survival in patients with endometrial cancer. 19, 296 (2019).
  • 2. Elmberger, P. G., Kalen, A., Brunk, U. T. & Dallner, G. Discharge of newly‐synthesized dolichol and ubiquinone with lipoproteins to rat liver perfusate and to the bile. 24, 919–930 (1989).
  • 3. Gupta, N., Verma, G., Kabra, M., Bijarnia-Mahay, S. & Ganapathy, A. Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing. 147, 422–426 (2018).
  • 4. Wolthuis, D. F., Janssen, M. C., Cassiman, D., Lefeber, D. J. & Morava-Kozicz, E. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation. 14, 217–224 (2014).
  • 5. Baudrand, R. et al. Overexpression of hepatic 5 α -reductase and 11 β -hydroxysteroid dehydrogenase type 1 in visceral adipose tissue is associated with hyperinsulinemia in morbidly obese patients. 60, 1775–1780 (2011).
  • 6. Trejter, M. et al. Expression of estrogen, estrogen related and androgen receptors in adrenal cortex of intact adult male and female rats. 53, 133–144 (2015).
  • 7. Morava, E. et al. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. 133, 3210–3220 (2010).
  • 8. Vyshlov, E., Tsoy, E., Sultanov, V., Trusov, V. & Ryabov, V. Hypolipidemic and Hepatoprotective Effects of a Polyprenol-Containing Drug in Patients with Acute Coronary Syndrome. 165, 319–321 (2018).
  • 9. Mitsiades, N. et al. Distinct Patterns of Dysregulated Expression of Enzymes Involved in Androgen Synthesis and Metabolism in Metastatic Prostate Cancer Tumors. 72, 6142–6152 (2012).
  • 10. Jaeken, J. Congenital disorders of glycosylation (CDG): it’s (nearly) all in it. 34, 853–858 (2011).
  • 11. Chen, C.-C., Huang, C.-P., Tsai, Y.-T., Hseih, T.-F. & Shyr, C.-R. The Genomic Alterations of 5α-Reductases and Their Inhibitor Finasteride’s Effect in Bladder Cancer. 37, 6893 (2017).
  • 12. Uemura, M. et al. Novel 5α‐steroid reductase (SRD5A3, type‐3) is overexpressed in hormone‐refractory prostate cancer. 99, 81–86 (2008).
  • 13. Martyniuk, C. J., Bissegger, S. & Langlois, V. S. Current perspectives on the androgen 5 alpha-dihydrotestosterone (DHT) and 5 alpha-reductases in teleost fishes and amphibians. 194, 264–274 (2013).
  • 14. Jaeken, J et al. Defects in N-glycan synthesis. DOI: 10.1036/ommbid.384 (2020)(abstract)
  • 15. Sagami, H., Swiezewska, E. & Shidoji, Y. The history and recent advances in research of polyprenol and its derivatives. 82, 947–955 (2018).
  • 16. Wang, C.-Z., Yuan, J.-J., Li, W.-J., Zhang, H.-Y. & Ye, J.-Z. In Vivo and In Vitro Toxicity Evaluation of Polyprenols Extracted from Ginkgo biloba L. Leaves. 20, 22257–22271 (2015).
  • 17. Guthrie, N., Carroll, K. K. & Ravi, K. Dolichol: function, metabolism, and accumulation in human tissues. 70, 382–384 (1992).
  • 18. Cantagrel, V. et al. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder. 142, 203–217 (2010).
  • 19. O’Shaughnessy, P. J., Monteiro, A., Bhattacharya, S., Fraser, M. J. & Fowler, P. A. Steroidogenic enzyme expression in the human fetal liver and potential role in the endocrinology of pregnancy. 19, 177–187 (2013).
  • 20. Kean, E. L. The dolichol pathway in the retina and its involvement in the glycosylation of rhodopsin. 1473, 272–285 (1999).
  • 21. Fouad Mansour, M., Pelletier, M. & Tchernof, A. Characterization of 5α-reductase activity and isoenzymes in human abdominal adipose tissues. 161, 45–53 (2016).
  • 22. Tollbom, O., Valtersson, C., Chojnacki, T. & Dallner, G. Esterification of dolichol in rat liver. 263, 1347 (1988).
  • 23. Elmberger G.P., et al. In vitro and in vivo synthesis of dolichol and other main mevalonate products in various organs of the rat. 168, 1-11 (1987)
  • 24. Kazeminasab, S., Najmabadi, H. & Kahrizi, K. Intellectual Disability and Ataxia: Genetic Collisions. 21, 29 (2018).
  • 25. Tuysuz, B. et al. Phenotypic expansion of congenital disorder of glycosylation due to SRD5A3 null mutation. 26, 7–12 (2016).
  • 26. Kean, E. L. The dolichol pathway in the retina and its involvement in the glycosylation of rhodopsin. 1473, 272–285 (1999).
  • 27. Li, J. et al. Androgen Regulation of 5α-Reductase Isoenzymes in Prostate Cancer: Implications for Prostate Cancer Prevention. 6, e28840 (2011).
  • 28. Pérez-Cerdá, C. et al. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis. 183, 170-177.e1 (2017).
  • 29. Ng, B. G. & Freeze, H. H. Perspectives on Glycosylation and Its Congenital Disorders. 34, 466–476 (2018).
  • 30. Medina-Cano, D. et al. High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect. 7, (2018).
  • 31. Kousal, B. et al. Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case. 65, 134–141 (2019).
  • 32. Dallner, G. & Sinderlar, P.J. Regulation of ubiquinone metabolism. 29, 285-294 (2000).
  • 33. Jin, P. et al. Differential expression of six genes and correlation with fatness traits in a unique broiler population. 24, 945-949 (2015)
  • 34. Kahrizi, K. et al. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. 19, 115–117 (2011).
  • 35. Al-Sarraj, Y. et al. A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome). 2, 232640981455052 (2014).
  • 36. Li, S.-T. et al. Reconstitution of the lipid-linked oligosaccharide pathway for assembly of high-mannose N-glycans. 10, 1813 (2019).
  • 37. Jozwiak, A. et al. POLYPRENOL REDUCTASE2 Deficiency Is Lethal in Arabidopsis Due to Male Sterility. 27, 3336–3353 (2015).
  • 38. Mizuno, S. et al. Peri-implantation lethality in mice carrying megabase-scale deletion on 5qc3.3 is caused by Exoc1 null mutation. 5, 13632 (2015).
  • 39. Züchner, S. et al. Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa. 88, 201–206 (2011).
  • 40. Barone, R., Fiumara, A. & Jaeken, J. Congenital Disorders of Glycosylation with Emphasis on Cerebellar Involvement. 34, 357–366 (2014).
  • 41. Gründahl, J. E. . et al. Life with too much polyprenol: polyprenol reductase deficiency. 105, 642–651 (2012).
  • 42. Syndromes, S. C.-D. G. & Syndromes, C. Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview. (1993).
  • 43. Robic, A. et al. Transcript levels of genes implicated in steroidogenesis inthe testes and fat tissue in relation to androstenoneaccumulation in fat of pubertal pigs. 57, 1-9 (2016).
  • 44. Zelinger, L. et al. A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews. 88, 207–215 (2011).
  • 45. Elmberger, P. G. et al. Effects of pravastatin and cholestyramine on products of the mevalonate pathway in familial hypercholesterolemia. 32, 935 (1991).
  • 46. Edlund, C., Ericsson, J. & Dallner, G. Changes in hepatic dolichol and dolichyl monophosphate caused by treatment of rats with inducers of the endoplasmic reticulum and peroxisomes and during ontogeny. 62, 191–208 (1987).
  • 47. Buczkowska, A., Swiezewska, E. & Lefeber, D. J. Genetic defects in dolichol metabolism. 38, 157–169 (2014).
  • 48. Vyshlov, E., Tsoy, E., Sultanov, V., Trusov, V. & Ryabov, V. Hypolipidemic and Hepatoprotective Effects of a Polyprenol-Containing Drug in Patients with Acute Coronary Syndrome. 165, 319–321 (2018).
  • 49. Bastaki, F. et al. Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. 82, 35–47 (2018).
  • 50. O’Shaughnessy, P. J., Monteiro, A., Bhattacharya, S., Fraser, M. J. & Fowler, P. A. Steroidogenic enzyme expression in the human fetal liver and potential role in the endocrinology of pregnancy. 19, 177–187 (2013).
  • 51. Cantagrel, V. et al. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder. 142, 203–217 (2010).
  • 52. Keller, R. K. Squalene synthase inhibition alters metabolism of nonsterols in rat liver. 1303, 169 (1996).
  • 53. Hamdan, F. F. et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 101, 664–685 (2017).
  • 54. Martyniuk, C.J. et al. Reprint of ‘‘Current perspectives on the androgen5alpha-dihydrotestosterone(DHT) and 5 alpha-reductases in teleost fishes and amphibians’’. 203, 10-20 (2014)
  • 55. Jaeken, J. Congenital disorders of glycosylation (CDG): It’s all in it. 26, 99–118 (2003).
  • 56. Löw, P., Andersson, M., Edlund, C. & Dallner, G. Effects of mevinolin treatment on tissue dolichol and ubiquinone levels in the rat. 1165, 102–109 (1992).
  • 57. Medrano, C. et al. Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain. 95, 615–626 (2019).
  • 58. Park, J. M., Song, K. H., Lim, J. S., Kim, J. W. & Sul, C. K. Is the Expression of Androgen Receptor Protein Associated With the Length of AC Repeats in the Type III 5-α Reductase Gene in Prostate Cancer Patients? 54, 404–408 (2013).
  • 59. Sánchez, P. et al. 5α-Reductase isozymes and aromatase mRNA levels in plucked hair from young women with female pattern hair loss. 310, 77–83 (2018).
  • 60. Mohamed, M. et al. Normal glycosylation screening does not rule out SRD5A3-CDG. 19, 1019 (2011).
  • 61. ELMBERGER, P. G., KALÈN, A., APPELKVIST, E. & DALLNER, G. In vitro and in vivo synthesis of dolichol and other main mevalonate products in various organs of the rat. 168, 1–11 (1987).
  • 62. Zhang, W. et al. Timing of Prenatal Exposure to Trauma and Altered Placental Expressions of HPA-Axis Genes and Genes Driving Neurodevelopment. vol. 30 e12581 (2018).
  • 63. Price, N. P. et al. Modified tunicamycins with reduced eukaryotic toxicity that enhance the antibacterial activity of β-lactams. 70, 1070–1077 (2017).
  • 64. Wheeler, P. G. et al. SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. 170, 3165–3171 (2016).
  • 65. Chavez, B. et al. Hamster SRD5A3 lacks steroid 5a-reductase activity in vitro. 94, 41-50 (2015)
  • 66. Taylor, R. L. et al. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. 135, 339–347 (2017).
  • 67. Low, P. et al. Nonmembrane associated dolichol in rat liver. 27,1-9 (1992)
  • 68. Lee, C. L., Lee, J., Na, Y. G. & Song, K. H. Combined effect of polymorphisms in type III 5-α reductase and androgen receptor gene with the risk of benign prostatic hyperplasia in Korea. 12, 504–508 (2016).
  • 69. Morava, E. et al. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. 133, 3210–3220 (2010).
  • 70. Cowie, A. M. et al. Transcript variability and physiological correlates in the fathead minnow ovary: Implications for sample size, and experimental power. 187, 22–30 (2015).
  • 71. Pérez-Cerdá, C. et al. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis. 183, 170-177.e1 (2017).
  • 72. Millon, M.B.B. et al. Two Argentinean Siblings with CDG Ix A Novel Type of Congenital Disorder of Glycosylation. DOI: 10.1007/8904_2011_18 (2011)
  • 73. Zwadlo, C. et al. Antiandrogenic Therapy With Finasteride Attenuates Cardiac Hypertrophy and Left Ventricular Dysfunction. 131, 1071–1081 (2015).
  • 74. Khan, A. O. Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). 39, 628–630 (2018).
  • 75. Kahrizi, K. et al. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. 17, 125–128 (2009).