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Defects in RNA splicing and the consequence of shortened translational reading frames.
Maquat LE. Maquat LE. Am J Hum Genet. 1996 Aug;59(2):279-86. Am J Hum Genet. 1996. PMID: 8755945 Free PMC article. No abstract available.
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.
Chang ML, Artymiuk PJ, Wu X, Hollán S, Lammi A, Maquat LE. Chang ML, et al. Among authors: maquat le. Am J Hum Genet. 1993 Jun;52(6):1260-9. Am J Hum Genet. 1993. PMID: 8503454 Free PMC article.
The power of point mutations.
Maquat LE. Maquat LE. Nat Genet. 2001 Jan;27(1):5-6. doi: 10.1038/83759. Nat Genet. 2001. PMID: 11137984 No abstract available.
Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes.
Valentin C, Cohen-Solal M, Maquat L, Horányi M, Inselt-Kovács M, Hollán S. Valentin C, et al. Among authors: maquat l. C R Acad Sci III. 2000 Mar;323(3):245-50. doi: 10.1016/s0764-4469(00)00128-1. C R Acad Sci III. 2000. PMID: 10782327
Nonsense-mediated decay of mRNA for the selenoprotein phospholipid hydroperoxide glutathione peroxidase is detectable in cultured cells but masked or inhibited in rat tissues.
Sun X, Li X, Moriarty PM, Henics T, LaDuca JP, Maquat LE. Sun X, et al. Among authors: maquat le. Mol Biol Cell. 2001 Apr;12(4):1009-17. doi: 10.1091/mbc.12.4.1009. Mol Biol Cell. 2001. PMID: 11294903 Free PMC article.
A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance.
Nagy E, Maquat LE. Nagy E, et al. Among authors: maquat le. Trends Biochem Sci. 1998 Jun;23(6):198-9. doi: 10.1016/s0968-0004(98)01208-0. Trends Biochem Sci. 1998. PMID: 9644970 Review. No abstract available.
Selenium deficiency reduces the abundance of mRNA for Se-dependent glutathione peroxidase 1 by a UGA-dependent mechanism likely to be nonsense codon-mediated decay of cytoplasmic mRNA.
Moriarty PM, Reddy CC, Maquat LE. Moriarty PM, et al. Among authors: maquat le. Mol Cell Biol. 1998 May;18(5):2932-9. doi: 10.1128/mcb.18.5.2932. Mol Cell Biol. 1998. PMID: 9566912 Free PMC article.
Nonsense-mediated decay of glutathione peroxidase 1 mRNA in the cytoplasm depends on intron position.
Sun X, Moriarty PM, Maquat LE. Sun X, et al. Among authors: maquat le. EMBO J. 2000 Sep 1;19(17):4734-44. doi: 10.1093/emboj/19.17.4734. EMBO J. 2000. PMID: 10970865 Free PMC article.
Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.
Daar IO, Artymiuk PJ, Phillips DC, Maquat LE. Daar IO, et al. Among authors: maquat le. Proc Natl Acad Sci U S A. 1986 Oct;83(20):7903-7. doi: 10.1073/pnas.83.20.7903. Proc Natl Acad Sci U S A. 1986. PMID: 2876430 Free PMC article.
Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family.
Brown JR, Daar IO, Krug JR, Maquat LE. Brown JR, et al. Among authors: maquat le. Mol Cell Biol. 1985 Jul;5(7):1694-706. doi: 10.1128/mcb.5.7.1694. Mol Cell Biol. 1985. PMID: 4022011 Free PMC article.
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