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Journal Abstract Search

178 related items for PubMed ID: 31323021

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  • 2. Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice.
    Jo Y, Hamilton JS, Hwang S, Garland K, Smith GA, Su S, Fuentes I, Neelam S, Thompson BM, McDonald JG, DeBose-Boyd RA.
    Elife; 2019 Feb 20; 8():. PubMed ID: 30785396
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  • 5. Geranylgeranyl-regulated transport of the prenyltransferase UBIAD1 between membranes of the ER and Golgi.
    Schumacher MM, Jun DJ, Jo Y, Seemann J, DeBose-Boyd RA.
    J Lipid Res; 2016 Jul 20; 57(7):1286-99. PubMed ID: 27121042
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  • 6. Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation.
    Jun DJ, Schumacher MM, Hwang S, Kinch LN, Grishin NV, DeBose-Boyd RA.
    J Lipid Res; 2020 May 20; 61(5):746-757. PubMed ID: 32188638
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  • 7. The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
    Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, Esposito D, Kinoshita S, Wessjohann L, Morham SG, Andresson T, Kruth HS, Okano T, Dean M.
    Hum Mutat; 2013 Feb 20; 34(2):317-29. PubMed ID: 23169578
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  • 8. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
    Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, Gold B, Chodosh J, Goldberg M, Lu DW, Yamada M, Tervo TM, Grutzmacher R, Croasdale C, Hoeltzenbein M, Sutphin J, Malkowicz SB, Wessjohann L, Kruth HS, Dean M, Weiss JS.
    PLoS One; 2010 May 21; 5(5):e10760. PubMed ID: 20505825
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  • 10. Naturally occurring UBIAD1 mutations differentially affect menaquinone biosynthesis and vitamin K-dependent carboxylation.
    Chen X, Furukawa N, Jin DY, Liu Y, Stafford DW, Williams CM, Suhara Y, Tie JK.
    FEBS J; 2022 May 21; 289(9):2613-2627. PubMed ID: 34813684
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  • 11. UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.
    Tsuneya M, Chen LW, Ono T, Hashimoto Y, Kitamoto K, Taketani Y, Toyono T, Aihara M, Miyai T.
    Jpn J Ophthalmol; 2023 Jan 21; 67(1):38-42. PubMed ID: 36367598
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  • 13. Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
    Evans CJ, Dudakova L, Skalicka P, Mahelkova G, Horinek A, Hardcastle AJ, Tuft SJ, Liskova P.
    BMC Ophthalmol; 2018 Sep 17; 18(1):250. PubMed ID: 30223810
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  • 16. Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.
    Sarosiak A, Udziela M, Ścieżyńska A, Oziębło D, Wawrzynowska A, Szaflik JP, Ołdak M.
    Graefes Arch Clin Exp Ophthalmol; 2018 Nov 17; 256(11):2127-2134. PubMed ID: 30084067
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  • 17. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
    Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels M.
    PLoS One; 2007 Aug 01; 2(8):e685. PubMed ID: 17668063
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  • 19. Regulated degradation of HMG CoA reductase requires conformational changes in sterol-sensing domain.
    Chen H, Qi X, Faulkner RA, Schumacher MM, Donnelly LM, DeBose-Boyd RA, Li X.
    Nat Commun; 2022 Jul 25; 13(1):4273. PubMed ID: 35879350
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  • 20. Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.
    Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, Ebenezer N, Nickerson ML.
    Am J Med Genet A; 2008 Feb 01; 146A(3):271-83. PubMed ID: 18176953
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