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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. Nickerson ML, et al. Among authors: kruth hs. PLoS One. 2010 May 21;5(5):e10760. doi: 10.1371/journal.pone.0010760. PLoS One. 2010. PMID: 20505825 Free PMC article.
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.
Dong F, Jin X, Boettler MA, Sciulli H, Abu-Asab M, Del Greco C, Wang S, Hu YC, Campos MM, Jackson SN, Muller L, Woods AS, Combs CA, Zhang J, Nickerson ML, Kruth HS, Weiss JS, Kao WW. Dong F, et al. Among authors: kruth hs. Sci Rep. 2018 Jul 5;8(1):10219. doi: 10.1038/s41598-018-28545-0. Sci Rep. 2018. PMID: 29977031 Free PMC article.
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 Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, Ebenezer N, Nickerson ML. Weiss JS, et al. Among authors: kruth hs. Am J Med Genet A. 2008 Feb 1;146A(3):271-83. doi: 10.1002/ajmg.a.32201. Am J Med Genet A. 2008. PMID: 18176953
The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression.
Fredericks WJ, McGarvey T, Wang H, Lal P, Puthiyaveettil R, Tomaszewski J, Sepulveda J, Labelle E, Weiss JS, Nickerson ML, Kruth HS, Brandt W, Wessjohann LA, Malkowicz SB. Fredericks WJ, et al. Among authors: kruth hs. DNA Cell Biol. 2011 Nov;30(11):851-64. doi: 10.1089/dna.2011.1315. Epub 2011 Jul 8. DNA Cell Biol. 2011. PMID: 21740188 Free PMC article.
127 results