Pesquisa | Biblioteca Virtual em Saúde Fiocruz

1.

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Schaffer, Ashleigh E; Eggens, Veerle R C; Caglayan, Ahmet Okay; Reuter, Miriam S; Scott, Eric; Coufal, Nicole G; Silhavy, Jennifer L; Xue, Yuanchao; Kayserili, Hulya; Yasuno, Katsuhito; Rosti, Rasim Ozgur; Abdellateef, Mostafa; Caglar, Caner; Kasher, Paul R; Cazemier, J Leonie; Weterman, Marian A; Cantagrel, Vincent; Cai, Na; Zweier, Christiane; Altunoglu, Umut; Satkin, N Bilge; Aktar, Fesih; Tuysuz, Beyhan; Yalcinkaya, Cengiz; Caksen, Huseyin; Bilguvar, Kaya; Fu, Xiang-Dong; Trotta, Christopher R; Gabriel, Stacey; Reis, André; Gunel, Murat; Baas, Frank; Gleeson, Joseph G.

Cell ; 157(3): 651-63, 2014 Apr 24.

Artigo em Inglês | MEDLINE | ID: mdl-24766810

2.

Unusual noncanonical intron editing is important for tRNA splicing in Trypanosoma brucei.

Rubio, Mary Anne T; Paris, Zdenek; Gaston, Kirk W; Fleming, Ian M C; Sample, Paul; Trotta, Christopher R; Alfonzo, Juan D.

Mol Cell ; 52(2): 184-92, 2013 Oct 24.

Artigo em Inglês | MEDLINE | ID: mdl-24095278

3.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Breuss, Martin W; Sultan, Tipu; James, Kiely N; Rosti, Rasim O; Scott, Eric; Musaev, Damir; Furia, Bansri; Reis, André; Sticht, Heinrich; Al-Owain, Mohammed; Alkuraya, Fowzan S; Reuter, Miriam S; Abou Jamra, Rami; Trotta, Christopher R; Gleeson, Joseph G.

Am J Hum Genet ; 99(1): 228-35, 2016 Jul 07.

Artigo em Inglês | MEDLINE | ID: mdl-27392077

4.

The nucleoside analog clitocine is a potent and efficacious readthrough agent.

Friesen, Westley J; Trotta, Christopher R; Tomizawa, Yuki; Zhuo, Jin; Johnson, Briana; Sierra, Jairo; Roy, Bijoyita; Weetall, Marla; Hedrick, Jean; Sheedy, Josephine; Takasugi, James; Moon, Young-Choon; Babu, Suresh; Baiazitov, Ramil; Leszyk, John D; Davis, Thomas W; Colacino, Joseph M; Peltz, Stuart W; Welch, Ellen M.

RNA ; 23(4): 567-577, 2017 04.

Artigo em Inglês | MEDLINE | ID: mdl-28096517

5.

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression.

Roy, Bijoyita; Friesen, Westley J; Tomizawa, Yuki; Leszyk, John D; Zhuo, Jin; Johnson, Briana; Dakka, Jumana; Trotta, Christopher R; Xue, Xiaojiao; Mutyam, Venkateshwar; Keeling, Kim M; Mobley, James A; Rowe, Steven M; Bedwell, David M; Welch, Ellen M; Jacobson, Allan.

Proc Natl Acad Sci U S A ; 113(44): 12508-12513, 2016 11 01.

Artigo em Inglês | MEDLINE | ID: mdl-27702906

6.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Breuss, Martin W; Sultan, Tipu; James, Kiely N; Rosti, Rasim O; Scott, Eric; Musaev, Damir; Furia, Bansri; Reis, André; Sticht, Heinrich; Al-Owain, Mohammed; Alkuraya, Fowzan S; Reuter, Miriam S; Abou Jamra, Rami; Trotta, Christopher R; Gleeson, Joseph G.

Am J Hum Genet ; 99(3): 785, 2016 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-27588454

7.

PTC124 targets genetic disorders caused by nonsense mutations.

Welch, Ellen M; Barton, Elisabeth R; Zhuo, Jin; Tomizawa, Yuki; Friesen, Westley J; Trifillis, Panayiota; Paushkin, Sergey; Patel, Meenal; Trotta, Christopher R; Hwang, Seongwoo; Wilde, Richard G; Karp, Gary; Takasugi, James; Chen, Guangming; Jones, Stephen; Ren, Hongyu; Moon, Young-Choon; Corson, Donald; Turpoff, Anthony A; Campbell, Jeffrey A; Conn, M Morgan; Khan, Atiyya; Almstead, Neil G; Hedrick, Jean; Mollin, Anna; Risher, Nicole; Weetall, Marla; Yeh, Shirley; Branstrom, Arthur A; Colacino, Joseph M; Babiak, John; Ju, William D; Hirawat, Samit; Northcutt, Valerie J; Miller, Langdon L; Spatrick, Phyllis; He, Feng; Kawana, Masataka; Feng, Huisheng; Jacobson, Allan; Peltz, Stuart W; Sweeney, H Lee.

Nature ; 447(7140): 87-91, 2007 May 03.

Artigo em Inglês | MEDLINE | ID: mdl-17450125

8.

Targeting strategies for modulating pre-mRNA splicing with small molecules: Recent advances.

Barraza, Scott J; Bhattacharyya, Anuradha; Trotta, Christopher R; Woll, Matthew G.

Drug Discov Today ; 28(1): 103431, 2023 01.

Artigo em Inglês | MEDLINE | ID: mdl-36356786

9.

Cleavage of pre-tRNAs by the splicing endonuclease requires a composite active site.

Trotta, Christopher R; Paushkin, Sergey V; Patel, Meenal; Li, Hong; Peltz, Stuart W.

Nature ; 441(7091): 375-7, 2006 May 18.

Artigo em Inglês | MEDLINE | ID: mdl-16710424

10.

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

Gao, Dadi; Morini, Elisabetta; Salani, Monica; Krauson, Aram J; Chekuri, Anil; Sharma, Neeraj; Ragavendran, Ashok; Erdin, Serkan; Logan, Emily M; Li, Wencheng; Dakka, Amal; Narasimhan, Jana; Zhao, Xin; Naryshkin, Nikolai; Trotta, Christopher R; Effenberger, Kerstin A; Woll, Matthew G; Gabbeta, Vijayalakshmi; Karp, Gary; Yu, Yong; Johnson, Graham; Paquette, William D; Cutting, Garry R; Talkowski, Michael E; Slaugenhaupt, Susan A.

Nat Commun ; 12(1): 3332, 2021 06 07.

Artigo em Inglês | MEDLINE | ID: mdl-34099697

11.

Small molecule splicing modifiers with systemic HTT-lowering activity.

Bhattacharyya, Anuradha; Trotta, Christopher R; Narasimhan, Jana; Wiedinger, Kari J; Li, Wencheng; Effenberger, Kerstin A; Woll, Matthew G; Jani, Minakshi B; Risher, Nicole; Yeh, Shirley; Cheng, Yaofeng; Sydorenko, Nadiya; Moon, Young-Choon; Karp, Gary M; Weetall, Marla; Dakka, Amal; Gabbeta, Vijayalakshmi; Naryshkin, Nikolai A; Graci, Jason D; Tripodi, Thomas; Southwell, Amber; Hayden, Michael; Colacino, Joseph M; Peltz, Stuart W.

Nat Commun ; 12(1): 7299, 2021 12 15.

Artigo em Inglês | MEDLINE | ID: mdl-34911927

12.

Targeting post-transcriptional control for drug discovery.

Peltz, Stuart W; Welch, Ellen M; Trotta, Christopher R; Davis, Thomas; Jacobson, Allan.

RNA Biol ; 6(3): 329-34, 2009.

Artigo em Inglês | MEDLINE | ID: mdl-19574739

13.

Biochemistry: the big catch.

Trotta, Christopher R.

Nature ; 447(7141): 156-7, 2007 May 10.

Artigo em Inglês | MEDLINE | ID: mdl-17495915

14.

Mining the GEMS--a novel platform technology targeting post-transcriptional control mechanisms.

Bhattacharyya, Anuradha; Trotta, Christopher R; Peltz, Stuart W.

Drug Discov Today ; 12(13-14): 553-60, 2007 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-17631250

15.

Nonsense suppression activity of PTC124 (ataluren).

Peltz, Stuart W; Welch, Ellen M; Jacobson, Allan; Trotta, Christopher R; Naryshkin, Nikolai; Sweeney, H Lee; Bedwell, David M.

Proc Natl Acad Sci U S A ; 106(25): E64; author reply E65, 2009 Jun 23.

Artigo em Inglês | MEDLINE | ID: mdl-19506240

16.

Derepression of the Her-2 uORF is mediated by a novel post-transcriptional control mechanism in cancer cells.

Mehta, Anuradha; Trotta, Christopher R; Peltz, Stuart W.

Genes Dev ; 20(8): 939-53, 2006 Apr 15.

Artigo em Inglês | MEDLINE | ID: mdl-16598037

17.

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

Paushkin, Sergey V; Patel, Meenal; Furia, Bansri S; Peltz, Stuart W; Trotta, Christopher R.

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

Artigo em Inglês | MEDLINE | ID: mdl-15109492

18.

Coordinated nuclear export of 60S ribosomal subunits and NMD3 in vertebrates.

Trotta, Christopher R; Lund, Elsebet; Kahan, Lawrence; Johnson, Arlen W; Dahlberg, James E.

EMBO J ; 22(11): 2841-51, 2003 Jun 02.

Artigo em Inglês | MEDLINE | ID: mdl-12773398

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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Unusual noncanonical intron editing is important for tRNA splicing in Trypanosoma brucei.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

The nucleoside analog clitocine is a potent and efficacious readthrough agent.

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

PTC124 targets genetic disorders caused by nonsense mutations.

Targeting strategies for modulating pre-mRNA splicing with small molecules: Recent advances.

Cleavage of pre-tRNAs by the splicing endonuclease requires a composite active site.

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

Small molecule splicing modifiers with systemic HTT-lowering activity.

Targeting post-transcriptional control for drug discovery.

Biochemistry: the big catch.

Mining the GEMS--a novel platform technology targeting post-transcriptional control mechanisms.

Nonsense suppression activity of PTC124 (ataluren).

Derepression of the Her-2 uORF is mediated by a novel post-transcriptional control mechanism in cancer cells.

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

Coordinated nuclear export of 60S ribosomal subunits and NMD3 in vertebrates.