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Results: 1 to 20 of 22

1.

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M; Baylor Hopkins Center for Mendelian Genomics, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR.

Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058.

PMID:
24766809
[PubMed - indexed for MEDLINE]
2.

Intron excision from precursor tRNA molecules in mammalian cells requires ATP hydrolysis and phosphorylation of tRNA-splicing endonuclease components.

Mair B, Popow J, Mechtler K, Weitzer S, Martinez J.

Biochem Soc Trans. 2013 Aug;41(4):831-7. doi: 10.1042/BST20130025.

PMID:
23863140
[PubMed - indexed for MEDLINE]
3.

Highly efficient, in vivo optimized, archaeal endonuclease for controlled RNA splicing in mammalian cells.

Putti S, Calandra P, Rossi N, Scarabino D, Deidda G, Tocchini-Valentini GP.

FASEB J. 2013 Sep;27(9):3466-77. doi: 10.1096/fj.13-231993. Epub 2013 May 16.

PMID:
23682120
[PubMed - indexed for MEDLINE]
4.

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Bierhals T, Korenke GC, Uyanik G, Kutsche K.

Eur J Med Genet. 2013 Jun;56(6):325-30. doi: 10.1016/j.ejmg.2013.03.009. Epub 2013 Apr 3. Review.

PMID:
23562994
[PubMed - indexed for MEDLINE]
5.

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Poll-The BT, Baas F.

Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50. Review.

PMID:
21749694
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F.

Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2.

PMID:
21368912
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

HSPC117 is the essential subunit of a human tRNA splicing ligase complex.

Popow J, Englert M, Weitzer S, Schleiffer A, Mierzwa B, Mechtler K, Trowitzsch S, Will CL, Lührmann R, Söll D, Martinez J.

Science. 2011 Feb 11;331(6018):760-4. doi: 10.1126/science.1197847.

PMID:
21311021
[PubMed - indexed for MEDLINE]
Free Article
8.

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.

Kasher PR, Namavar Y, van Tijn P, Fluiter K, Sizarov A, Kamermans M, Grierson AJ, Zivkovic D, Baas F.

Hum Mol Genet. 2011 Apr 15;20(8):1574-84. doi: 10.1093/hmg/ddr034. Epub 2011 Jan 27.

PMID:
21273289
[PubMed - indexed for MEDLINE]
Free Article
9.

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.

Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E.

Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173.

PMID:
20956791
[PubMed - indexed for MEDLINE]
10.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT.

Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.

PMID:
20952379
[PubMed - indexed for MEDLINE]
Free Article
11.

Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB.

Am J Med Genet A. 2010 Sep;152A(9):2268-76. doi: 10.1002/ajmg.a.33579.

PMID:
20803644
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.

Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.

PMID:
18711368
[PubMed - indexed for MEDLINE]
13.

Human RNA 5'-kinase (hClp1) can function as a tRNA splicing enzyme in vivo.

Ramirez A, Shuman S, Schwer B.

RNA. 2008 Sep;14(9):1737-45. doi: 10.1261/rna.1142908. Epub 2008 Jul 22.

PMID:
18648070
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Structural determinants characteristic to AARS subclasses and tRNA-splicing endonuclease in eukaryotes.

Mallick B, Ghosh Z, Chakrabarti J.

J Biomol Struct Dyn. 2008 Oct;26(2):223-34.

PMID:
18597544
[PubMed - indexed for MEDLINE]
15.

hClp1: a novel kinase revitalizes RNA metabolism.

Weitzer S, Martinez J.

Cell Cycle. 2007 Sep 1;6(17):2133-7. Epub 2007 Jun 27.

PMID:
17786051
[PubMed - indexed for MEDLINE]
Free Article
16.

Three-dimensional structure determined for a subunit of human tRNA splicing endonuclease (Sen15) reveals a novel dimeric fold.

Song J, Markley JL.

J Mol Biol. 2007 Feb 9;366(1):155-64. Epub 2006 Nov 11.

PMID:
17166513
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

MMASS: an optimized array-based method for assessing CpG island methylation.

Ibrahim AE, Thorne NP, Baird K, Barbosa-Morais NL, Tavaré S, Collins VP, Wyllie AH, Arends MJ, Brenton JD.

Nucleic Acids Res. 2006;34(20):e136. Epub 2006 Oct 13.

PMID:
17041235
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Cotranscription and intergenic splicing of the PPARG and TSEN2 genes in cattle.

Roux M, Levéziel H, Amarger V.

BMC Genomics. 2006 Apr 4;7:71.

PMID:
16595010
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Spliceosome-mediated RNA trans-splicing.

Yang Y, Walsh CE.

Mol Ther. 2005 Dec;12(6):1006-12. Epub 2005 Oct 12. Review.

PMID:
16226059
[PubMed - indexed for MEDLINE]
20.

Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation.

Paushkin SV, Patel M, Furia BS, Peltz SW, Trotta CR.

Cell. 2004 Apr 30;117(3):311-21.

PMID:
15109492
[PubMed - indexed for MEDLINE]
Free Article

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