Citations for
1MIDSSA, MRT55, PUS3, PUS7, TRUB1
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
de Brouwer APM, Abou Jamra R, Körtel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S.
Am J Hum Genet 103(6):1045-1052. doi: 10.1016/j.ajhg.2018.10.026. 2018
2PUS7, TRUB1
TRUB1 is the predominant pseudouridine synthase acting on mammalian mRNA via a predictable and conserved code.
Safra M, Nir R, Farouq D, Vainberg Slutskin I, Schwartz S.
Genome Res 27(3):393-406. doi: 10.1101/gr.207613.116. Epub 2017 Jan 10. Erratum in: Genome Res. 2017 Aug;27(8):1460. 2017
3TRUB1, TRUB2, DKC1
The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.
Zucchini C, Strippoli P, Biolchi A, Solmi R, Lenzi L, D'Addabbo P, Carinci P, Valvassori L.
Int J Mol Med 11(6):697-704. 2003