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Results: 1 to 20 of 102

1.

rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.

Jack K, Bellodi C, Landry DM, Niederer RO, Meskauskas A, Musalgaonkar S, Kopmar N, Krasnykh O, Dean AM, Thompson SR, Ruggero D, Dinman JD.

Mol Cell. 2011 Nov 18;44(4):660-6. doi: 10.1016/j.molcel.2011.09.017.

PMID:
22099312
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA.

Zebarjadian Y, King T, Fournier MJ, Clarke L, Carbon J.

Mol Cell Biol. 1999 Nov;19(11):7461-72.

PMID:
10523634
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.

Thumati NR, Zeng XL, Au HH, Jang CJ, Jan E, Wong JM.

Hum Mutat. 2013 Dec;34(12):1698-707. doi: 10.1002/humu.22447. Epub 2013 Oct 21.

PMID:
24115260
[PubMed - indexed for MEDLINE]
4.

The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3.

Cadwell C, Yoon HJ, Zebarjadian Y, Carbon J.

Mol Cell Biol. 1997 Oct;17(10):6175-83.

PMID:
9315678
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A.

Am J Hum Genet. 1999 Jul;65(1):50-8.

PMID:
10364516
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ.

Gene. 2014 Aug 10;546(2):425-9. doi: 10.1016/j.gene.2014.06.011. Epub 2014 Jun 7.

PMID:
24914498
[PubMed - indexed for MEDLINE]
7.

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I.

Nat Genet. 1998 May;19(1):32-8.

PMID:
9590285
[PubMed - indexed for MEDLINE]
8.

Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.

Yoon A, Peng G, Brandenburger Y, Zollo O, Xu W, Rego E, Ruggero D.

Science. 2006 May 12;312(5775):902-6. Erratum in: Science. 2006 Sep;313(5791):1238. Brandenburg, Yves [corrected to Brandenburger, Yves].

PMID:
16690864
[PubMed - indexed for MEDLINE]
Free Article
9.

A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.

Vogiatzi P, Perdigones N, Mason PJ, Wilson DB, Bessler M.

Pediatr Blood Cancer. 2013 Jun;60(6):E4-6. doi: 10.1002/pbc.24389. Epub 2013 Jan 17.

PMID:
23335200
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.

Li S, Duan J, Li D, Ma S, Ye K.

EMBO J. 2011 Nov 25;30(24):5010-20. doi: 10.1038/emboj.2011.427.

PMID:
22117216
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Different mechanisms for pseudouridine formation in yeast 5S and 5.8S rRNAs.

Decatur WA, Schnare MN.

Mol Cell Biol. 2008 May;28(10):3089-100. doi: 10.1128/MCB.01574-07. Epub 2008 Mar 10.

PMID:
18332121
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase.

Lafontaine DL, Bousquet-Antonelli C, Henry Y, Caizergues-Ferrer M, Tollervey D.

Genes Dev. 1998 Feb 15;12(4):527-37.

PMID:
9472021
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Analysis of the binding of the N-terminal conserved domain of yeast Cbf5p to a box H/ACA snoRNA.

Normand C, Capeyrou R, Quevillon-Cheruel S, Mougin A, Henry Y, Caizergues-Ferrer M.

RNA. 2006 Oct;12(10):1868-82. Epub 2006 Aug 24.

PMID:
16931875
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Elucidating the role of H/ACA-like RNAs in trans-splicing and rRNA processing via RNA interference silencing of the Trypanosoma brucei CBF5 pseudouridine synthase.

Barth S, Hury A, Liang XH, Michaeli S.

J Biol Chem. 2005 Oct 14;280(41):34558-68. Epub 2005 Aug 17.

PMID:
16107339
[PubMed - indexed for MEDLINE]
Free Article
15.

Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita.

Rashid R, Liang B, Baker DL, Youssef OA, He Y, Phipps K, Terns RM, Terns MP, Li H.

Mol Cell. 2006 Jan 20;21(2):249-60.

PMID:
16427014
[PubMed - indexed for MEDLINE]
Free Article
16.

Reconstitution and structural analysis of the yeast box H/ACA RNA-guided pseudouridine synthase.

Li S, Duan J, Li D, Yang B, Dong M, Ye K.

Genes Dev. 2011 Nov 15;25(22):2409-21. doi: 10.1101/gad.175299.111.

PMID:
22085967
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.

Ruggero D, Grisendi S, Piazza F, Rego E, Mari F, Rao PH, Cordon-Cardo C, Pandolfi PP.

Science. 2003 Jan 10;299(5604):259-62.

PMID:
12522253
[PubMed - indexed for MEDLINE]
Free Article
18.

Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis.

Bellodi C, Krasnykh O, Haynes N, Theodoropoulou M, Peng G, Montanaro L, Ruggero D.

Cancer Res. 2010 Jul 15;70(14):6026-35. doi: 10.1158/0008-5472.CAN-09-4730. Epub 2010 Jun 29.

PMID:
20587522
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita.

Bellodi C, Kopmar N, Ruggero D.

EMBO J. 2010 Jun 2;29(11):1865-76. doi: 10.1038/emboj.2010.83. Epub 2010 May 7.

PMID:
20453831
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Cloning and characterization of Arabidopsis thaliana AtNAP57--a homologue of yeast pseudouridine synthase Cbf5p.

Maceluch J, Kmieciak M, Szweykowska-Kulińska Z, Jarmołowski A.

Acta Biochim Pol. 2001;48(3):699-709.

PMID:
11833778
[PubMed - indexed for MEDLINE]
Free Article
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