Detalhe da pesquisa
1.
The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing superfunctional protein that can be further enhanced by CFTR modulators.
Am J Physiol Lung Cell Mol Physiol
; 324(6): L756-L770, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37014818
2.
Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
Int J Mol Sci
; 24(5)2023 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36901952
3.
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Hum Mutat
; 43(1): 30-41, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694046
4.
Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.
Hum Mol Genet
; 26(16): 3116-3129, 2017 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575328
5.
Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression.
Proc Natl Acad Sci U S A
; 113(44): 12508-12513, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27702906
6.
Therapeutics based on stop codon readthrough.
Annu Rev Genomics Hum Genet
; 15: 371-94, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24773318
7.
Both the autophagy and proteasomal pathways facilitate the Ubp3p-dependent depletion of a subset of translation and RNA turnover factors during nitrogen starvation in Saccharomyces cerevisiae.
RNA
; 21(5): 898-910, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25795416
8.
Discovery of Clinically Approved Agents That Promote Suppression of Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations.
Am J Respir Crit Care Med
; 194(9): 1092-1103, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27104944
9.
Distinct eRF3 requirements suggest alternate eRF1 conformations mediate peptide release during eukaryotic translation termination.
Mol Cell
; 30(5): 599-609, 2008 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-18538658
10.
Suppression of premature termination codons as a therapeutic approach.
Crit Rev Biochem Mol Biol
; 47(5): 444-63, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22672057
11.
Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftor.
Am J Respir Cell Mol Biol
; 50(4): 805-16, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24251786
12.
Identification of eRF1 residues that play critical and complementary roles in stop codon recognition.
RNA
; 18(6): 1210-21, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543865
13.
Long-term nonsense suppression therapy moderates MPS I-H disease progression.
Mol Genet Metab
; 111(3): 374-381, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24411223
14.
Heterozygosity for the F508del mutation in the cystic fibrosis transmembrane conductance regulator anion channel attenuates influenza severity.
J Infect Dis
; 208(5): 780-9, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23749967
15.
Extended stop codon context predicts nonsense codon readthrough efficiency in human cells.
Nat Commun
; 15(1): 2486, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509072
16.
Prime editing-mediated correction of the CFTR W1282X mutation in iPSCs and derived airway epithelial cells.
PLoS One
; 18(11): e0295009, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38019847
17.
The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.
Mol Genet Metab
; 105(1): 116-25, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22056610
18.
Enhancement of alveolar epithelial sodium channel activity with decreased cystic fibrosis transmembrane conductance regulator expression in mouse lung.
Am J Physiol Lung Cell Mol Physiol
; 301(4): L557-67, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21743028
19.
Connection between stop codon reassignment and frequent use of shifty stop frameshifting.
RNA
; 15(5): 889-97, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19329535
20.
PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model.
Proc Natl Acad Sci U S A
; 105(6): 2064-9, 2008 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-18272502