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Items: 33

1.

Disease modelling of core pre-mRNA splicing factor haploinsufficiency.

Wood KA, Rowlands CF, Qureshi WMS, Thomas HB, Buczek WA, Briggs TA, Hubbard SJ, Hentges K, Newman WG, O'Keefe RT.

Hum Mol Genet. 2019 Jul 13. pii: ddz169. doi: 10.1093/hmg/ddz169. [Epub ahead of print]

PMID:
31304552
2.

A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.

Demain LAM, Antunes D, O'Sullivan J, Bhaskhar SS, O'Keefe RT, Newman WG.

Clin Genet. 2018 Aug;94(2):276-277. doi: 10.1111/cge.13255. Epub 2018 Apr 19. No abstract available.

PMID:
29671881
3.

Large-scale profiling of noncoding RNA function in yeast.

Parker S, Fraczek MG, Wu J, Shamsah S, Manousaki A, Dungrattanalert K, de Almeida RA, Invernizzi E, Burgis T, Omara W, Griffiths-Jones S, Delneri D, O'Keefe RT.

PLoS Genet. 2018 Mar 12;14(3):e1007253. doi: 10.1371/journal.pgen.1007253. eCollection 2018 Mar.

4.

A resource for functional profiling of noncoding RNA in the yeast Saccharomyces cerevisiae.

Parker S, Fraczek MG, Wu J, Shamsah S, Manousaki A, Dungrattanalert K, de Almeida RA, Estrada-Rivadeneyra D, Omara W, Delneri D, O'Keefe RT.

RNA. 2017 Aug;23(8):1166-1171. doi: 10.1261/rna.061564.117. Epub 2017 May 3.

5.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.

PMID:
28138155
6.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Erratum in: Nat Genet. 2017 Jan 31;49(2):317.

7.

Non-coding RNAs and disease: the classical ncRNAs make a comeback.

de Almeida RA, Fraczek MG, Parker S, Delneri D, O'Keefe RT.

Biochem Soc Trans. 2016 Aug 15;44(4):1073-8. doi: 10.1042/BST20160089. Review.

8.

The NineTeen Complex (NTC) and NTC-associated proteins as targets for spliceosomal ATPase action during pre-mRNA splicing.

de Almeida RA, O'Keefe RT.

RNA Biol. 2015;12(2):109-14. doi: 10.1080/15476286.2015.1008926.

9.

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. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26.

10.

Remodeling of U2-U6 snRNA helix I during pre-mRNA splicing by Prp16 and the NineTeen Complex protein Cwc2.

Hogg R, de Almeida RA, Ruckshanthi JP, O'Keefe RT.

Nucleic Acids Res. 2014 Jul;42(12):8008-23. doi: 10.1093/nar/gku431. Epub 2014 May 21.

11.

The U5 snRNA internal loop 1 is a platform for Brr2, Snu114 and Prp8 protein binding during U5 snRNP assembly.

Nancollis V, Ruckshanthi JP, Frazer LN, O'Keefe RT.

J Cell Biochem. 2013 Dec;114(12):2770-84. doi: 10.1002/jcb.24625.

12.

Splint ligation of RNA with T4 DNA ligase.

Kershaw CJ, O'Keefe RT.

Methods Mol Biol. 2012;941:257-69. doi: 10.1007/978-1-62703-113-4_19.

13.

Non-coding RNAs in Saccharomyces cerevisiae: what is the function?

Wu J, Delneri D, O'Keefe RT.

Biochem Soc Trans. 2012 Aug;40(4):907-11. doi: 10.1042/BST20120042. Review.

14.

Saccharomyces cerevisiae NineTeen complex (NTC)-associated factor Bud31/Ycr063w assembles on precatalytic spliceosomes and improves first and second step pre-mRNA splicing efficiency.

Saha D, Khandelia P, O'Keefe RT, Vijayraghavan U.

J Biol Chem. 2012 Feb 17;287(8):5390-9. doi: 10.1074/jbc.M111.298547. Epub 2012 Jan 3.

15.

The function of the NineTeen Complex (NTC) in regulating spliceosome conformations and fidelity during pre-mRNA splicing.

Hogg R, McGrail JC, O'Keefe RT.

Biochem Soc Trans. 2010 Aug;38(4):1110-5. doi: 10.1042/BST0381110. Review.

16.

Analysis of synthetic lethality reveals genetic interactions between the GTPase Snu114p and snRNAs in the catalytic core of the Saccharomyces cerevisiae spliceosome.

Frazer LN, Lovell SC, O'Keefe RT.

Genetics. 2009 Oct;183(2):497-515-1SI-4SI. doi: 10.1534/genetics.109.107243. Epub 2009 Jul 20.

17.

Mutations in the U5 snRNA result in altered splicing of subsets of pre-mRNAs and reduced stability of Prp8.

Kershaw CJ, Barrass JD, Beggs JD, O'Keefe RT.

RNA. 2009 Jul;15(7):1292-304. doi: 10.1261/rna.1347409. Epub 2009 May 15.

18.

The RNA binding protein Cwc2 interacts directly with the U6 snRNA to link the nineteen complex to the spliceosome during pre-mRNA splicing.

McGrail JC, Krause A, O'Keefe RT.

Nucleic Acids Res. 2009 Jul;37(13):4205-17. doi: 10.1093/nar/gkp341. Epub 2009 May 12.

19.

The role of Snu114p during pre-mRNA splicing.

Frazer LN, Nancollis V, O'Keefe RT.

Biochem Soc Trans. 2008 Jun;36(Pt 3):551-3. doi: 10.1042/BST0360551. Review.

PMID:
18482006
20.

The U1, U2 and U5 snRNAs crosslink to the 5' exon during yeast pre-mRNA splicing.

McGrail JC, O'Keefe RT.

Nucleic Acids Res. 2008 Feb;36(3):814-25. Epub 2007 Dec 15.

21.

Analysis of pre-mRNA and pre-rRNA processing factor Snu13p structure and mutants.

Dobbyn HC, McEwan PA, Krause A, Novak-Frazer L, Bella J, O'Keefe RT.

Biochem Biophys Res Commun. 2007 Sep 7;360(4):857-62. Epub 2007 Jul 9.

PMID:
17631273
23.

Mutation in the U2 snRNA influences exon interactions of U5 snRNA loop 1 during pre-mRNA splicing.

McGrail JC, Tatum EM, O'Keefe RT.

EMBO J. 2006 Aug 23;25(16):3813-22. Epub 2006 Aug 3.

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26.

Protein-RNA interactions in the U5 snRNP of Saccharomyces cerevisiae.

Dix I, Russell CS, O'Keefe RT, Newman AJ, Beggs JD.

RNA. 1998 Dec;4(12):1675-86.

27.

Protein-RNA interactions in the U5 snRNP of Saccharomyces cerevisiae.

Dix I, Russell CS, O'Keefe RT, Newman AJ, Beggs JD.

RNA. 1998 Oct;4(10):1239-50. Corrected and republished in: RNA 1998 Dec;4(12):1675-86. RNA. 1998 Dec;4(12):1675-86.

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30.

Disruption of pre-mRNA splicing in vivo results in reorganization of splicing factors.

O'Keefe RT, Mayeda A, Sadowski CL, Krainer AR, Spector DL.

J Cell Biol. 1994 Feb;124(3):249-60.

31.

Organization of RNA polymerase II transcription and pre-mRNA splicing within the mammalian cell nucleus.

Spector DL, Landon S, O'Keefe RT.

Biochem Soc Trans. 1993 Nov;21(4):918-20. Review. No abstract available.

PMID:
8132093
32.

Dynamics of transcription and pre-mRNA splicing within the mammalian cell nucleus.

Spector DL, O'Keefe RT, Jiménez-García LF.

Cold Spring Harb Symp Quant Biol. 1993;58:799-805. No abstract available.

PMID:
7956094

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