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Recent findings

Recent Findings

1Sagami H, Swiezewska E, Shidoji Y. The history and recent advances in research of polyprenol and its derivatives. Bioscience, Biotechnology, and Biochemistry: Special Issue: Recent advances in isoprenoid studies. 2018;82(6):947-955. http://www.tandfonline.com/doi/abs/10.1080/09168451.2017.1411775. doi: 10.1080/09168451.2017.1411775.
2Millón MB, Delgado MA, Azar NB, et al. Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?. JIMD Rep. 2011;1:65-72.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509812/ doi:10.1007/8904_2011_18 .
3Züchner S, Dallman J, Wen R, et al. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. American journal of human genetics. 2011;88(2):201-206. https://search.datacite.org/works/10.1016/j.ajhg.2011.01.001. doi: 10.1016/j.ajhg.2011.01.001.
4Cowie AM, Wood RK, Chishti Y, Feswick A, Loughery JR, Martyniuk CJ. Transcript variability and physiological correlates in the fathead minnow ovary: Implications for sample size, and experimental power. Comparative Biochemistry and Physiology, Part B. 2015;187:22-30. http://dx.doi.org/10.1016/j.cbpb.2015.04.013. doi: 10.1016/j.cbpb.2015.04.013.
5Robic, A., Feve, K., Riquet, J., & Prunier, A. (2016). Transcript levels of genes implicated in steroidogenesis in the testes and fat tissue in relation to androstenone accumulation in fat of pubertal pigs. Domestic animal endocrinology, 57, 1–9. https://doi.org/10.1016/j.domaniend.2016.03.008
6O'Shaughnessy PJ, Monteiro A, Bhattacharya S, Fraser MJ, Fowler PA. Steroidogenic enzyme expression in the human fetal liver and potential role in the endocrinology of pregnancy. Molecular human reproduction. 2013;19(3):177-187. https://www.ncbi.nlm.nih.gov/pubmed/23197595. doi: 10.1093/molehr/gas059.
7Zhang W, Li Q, Deyssenroth M, et al. Timing of prenatal exposure to trauma and altered placental expressions of HPA-axis genes and genes driving neurodevelopment. Journal of neuroendocrinology. 2018;30(4):e12581. https://www.openaire.eu/search/publication?articleId=od_______267::c4ca78ed8c04e9b7d1c5ea542a841a21. doi: 10.1111/jne.12581.
8Kean EL. The dolichol pathway in the retina and its involvement in the glycosylation of rhodopsin. Biochimica et biophysica acta. General subjects. 1999;1473(2-3):272-285. https://search.datacite.org/works/10.1016/s0304-4165(99)00198-1. doi: 10.1016/s0304-4165(99)00198-1.
9Chen C, Huang C, Tsai Y, Hseih T, Shyr C. The genomic alterations of 5α-reductases and their inhibitor finasteride's effect in bladder cancer. Anticancer research. 2017;37(12):6893. https://www.ncbi.nlm.nih.gov/pubmed/29187470. doi: 10.21873/anticanres.12152.
10Bastaki F, Bizzari S, Hamici S, et al. Single-center experience of N-linked congenital disorders of glycosylation with a summary of molecularly characterized cases in arabs. Annals of human genetics. 2018;82(1):35-47. https://search.datacite.org/works/10.1111/ahg.12220. doi: 10.1111/ahg.12220.
11Keller RK. Squalene synthase inhibition alters metabolism of nonsterols in rat liver. Biochimica et biophysica acta. 1996;1303(3):169. https://www.ncbi.nlm.nih.gov/pubmed/8908150.
12Cantagrel V, Lefeber DJ, Ng BG, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010;142(2):203-217. http://dx.doi.org/10.1016/j.cell.2010.06.001. doi: 10.1016/j.cell.2010.06.001.
13Wheeler PG, Ng BG, Sanford L, et al. SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. American Journal of Medical Genetics Part A. 2016;170(12):3165-3171. https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.37875. doi: 10.1002/ajmg.a.37875.
14Kousal B, Honzík T, Hansíková H, 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. Folia biologica. 2019;65(3):134-141. https://www.ncbi.nlm.nih.gov/pubmed/31638560.
15Martyniuk, C. J., Bissegger, S., & Langlois, V. S. (2014). Reprint of "Current perspectives on the androgen 5 alpha-dihydrotestosterone (DHT) and 5 alpha-reductases in teleost fishes and amphibians". General and comparative endocrinology, 203, 10–20. https://doi.org/10.1016/j.ygcen.2014.06.011
16Dallner, G., & Sindelar, P. J. (2000). Regulation of ubiquinone metabolism. Free radical biology & medicine, 29(3-4), 285–294. https://doi.org/10.1016/s0891-5849(00)00307-5
17Adam Jozwiak, Malgorzata Gutkowska, Katarzyna Gawarecka, et al. POLYPRENOL REDUCTASE2 deficiency is lethal in arabidopsis due to male sterility. The Plant cell. 2015;27(12):3336-3353. https://www.jstor.org/stable/plantcell.27.12.3336. doi: 10.1105/tpc.15.00463.
18Freeze HH, Schachter H, Kinoshita T. Genetic Disorders of Glycosylation. 2017. In: Varki A, Cummings RD, Esko JD, et al., editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017. Chapter 45. Available from: https://www.ncbi.nlm.nih.gov/books/NBK453041/ doi: 10.1101/glycobiology.3e.045
19Li S, Lu T, Xu X, et al. Reconstitution of the lipid-linked oligosaccharide pathway for assembly of high-mannose N-glycans. Nature communications. 2019;10(1):1813. https://search.datacite.org/works/10.1038/s41467-019-09752-3. doi: 10.1038/s41467-019-09752-3.
20Tuysuz B, Pehlivan D, Özkök A, et al. Phenotypic expansion of congenital disorder of glycosylation due to SRD5A3 null mutation. JIMD reports. 2016;26:7-12. https://www.ncbi.nlm.nih.gov/pubmed/26219881. doi: 10.1007/8904_2015_478.
21Ng BG, Freeze HH. Perspectives on glycosylation and its congenital disorders. Trends in genetics. 2018;34(6):466-476. https://search.datacite.org/works/10.1016/j.tig.2018.03.002. doi: 10.1016/j.tig.2018.03.002.
22Löw, P., Peterson, E., Edlund, C., Brunk, U., & Appelkvist, E. L. (1992). Nonmembrane associated dolichol in rat liver. Lipids, 27(1), 1–9. https://doi.org/10.1007/BF02537050
23Mizuno S, Takami K, Daitoku Y, et al. Peri-implantation lethality in mice carrying megabase-scale deletion on 5qc3.3 is caused by Exoc1 null mutation. Scientific reports. 2015;5(1):13632. https://search.datacite.org/works/10.1038/srep13632. doi: 10.1038/srep13632.
24Baudrand R, Domínguez JM, Carvajal CA, 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. Metabolism. 2011;60(12):1775-1780. https://www.clinicalkey.es/playcontent/1-s2.0-S0026049511001260. doi: 10.1016/j.metabol.2011.05.001.
25Mohamed M, Cantagrel V, Al-Gazali L, Wevers RA, Lefeber DJ, Morava E. Normal glycosylation screening does not rule out SRD5A3-CDG. European journal of human genetics : EJHG. 2011;19(10):1019. https://www.narcis.nl/publication/RecordID/oai:repository.ubn.ru.nl:2066%2F98158. doi: 10.1038/ejhg.2010.260.
26Uemura M, Tamura K, Chung S, et al. Novel 5α‐steroid reductase (SRD5A3, type‐3) is overexpressed in hormone‐refractory prostate cancer. Cancer Science. 2008;99(1):81-86. https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1349-7006.2007.00656.x. doi: 10.1111/j.1349-7006.2007.00656.x.
27Kahrizi K, Hu CH, Garshasbi M, et al. Next generation sequencing in a family with autosomal recessive kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European journal of human genetics : EJHG. 2011;19(1):115-117. https://www.ncbi.nlm.nih.gov/pubmed/20700148. doi: 10.1038/ejhg.2010.132.
28Price NP, Hartman TM, Li J, et al. Modified tunicamycins with reduced eukaryotic toxicity that enhance the antibacterial activity of β-lactams. Journal of antibiotics. 2017;70(11):1070-1077. https://www.ncbi.nlm.nih.gov/pubmed/28951601. doi: 10.1038/ja.2017.101.
29Gründahl JEH, Guan Z, Rust S, et al. Life with too much polyprenol: Polyprenol reductase deficiency. Molecular Genetics and Metabolism. 2012;105(4):642-651. http://dx.doi.org/10.1016/j.ymgme.2011.12.017. doi: 10.1016/j.ymgme.2011.12.017.
30Jaeken J. Congenital disorders of glycosylation (CDG): It's all in it. J Inherit Metab Dis. 2003;26(2):99-118. https://onlinelibrary.wiley.com/doi/abs/10.1023/A:1024431131208. doi: 10.1023/A:1024431131208.
31Park JM, Song KH, Lim JS, Kim JW, Sul CK. 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? Korean journal of urology. 2013;54(6):404-408. https://www.ncbi.nlm.nih.gov/pubmed/23789051. doi: 10.4111/kju.2013.54.6.404.
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33Wang CZ, Yuan JJ, Li WJ, Zhang HY, Ye JZ. In Vivo and In Vitro Toxicity Evaluation of Polyprenols Extracted from Ginkgo biloba L. Leaves. Molecules. 2015;20(12):22257-22271. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332170/ doi:10.3390/molecules201219839
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36Gupta N, Verma G, Kabra M, Bijarnia-Mahay S, Ganapathy A. Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing. Indian Journal of Medical Research. 2018;147(4):422-426. http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2018;volume=147;issue=4;spage=422;epage=426;aulast=Gupta;type=0. doi: 10.4103/ijmr.IJMR_820_16.
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39Chávez, B., Ramos, L., García-Becerra, R., & Vilchis, F. (2015). Hamster SRD5A3 lacks steroid 5α-reductase activity in vitro. Steroids, 94, 41–50. https://doi.org/10.1016/j.steroids.2014.11.005
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