| 1 | BMKS, TXNL4A |
| Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. | |
| Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM. | |
| Am J Hum Genet 95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26. 2014 | |
| 2 | PQBP1, TXNL4A |
| Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD. | |
| Mizuguchi M, Obita T, Serita T, Kojima R, Nabeshima Y, Okazawa H. | |
| Nat Commun 5:3822. doi: 10.1038/ncomms4822. 2014 | |
| 3 | PQBP1, TXNL4A |
| Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain. | |
| Takahashi M, Mizuguchi M, Shinoda H, Aizawa T, Demura M, Okazawa H, Kawano K. | |
| Biochim Biophys Acta 1804(7):1500-7. doi: 10.1016/j.bbapap.2010.03.007. Epub 2010 Mar 20. 2010 | |
| 4 | TXNL4A |
| Identification of human dim1 as a peptidase with autocleavage activity. | |
| Jin T, Guo F, Wang Y, Zhang YZ. | |
| Chem Biol Drug Des 68(5):266-72. 2006 | |
| 5 | TXNL4A, TXNL4B |
| Biochemical characterization and crystal structure of a Dim1 family associated protein: Dim2. | |
| Simeoni F, Arvai A, Bello P, Gondeau C, Hopfner KP, Neyroz P, Heitz F, Tainer J, Divita G. | |
| Biochemistry 44(36):11997-2008. 2005 | |
| 6 | TXNL4A |
| The evolutionarily conserved Dim1 protein defines a novel branch of the thioredoxin fold superfamily. | |
| Zhang YZ, Gould KL, Dunbrack RL JR, Cheng H, Roder H, Golemis EA. | |
| Physiol Genomics 1(3):109-18. 1999 | |
| 7 | TXNL4A |
| Identification, characterization and crystal structure analysis of the human spliceosomal U5 snRNP-specific 15 kD protein. | |
| Reuter K, Nottrott S, Fabrizio P, Luhrmann R, Ficner R. | |
| J Mol Biol 294(2):515-25. 1999 | |