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.
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
4.
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
5.
Therapeutics based on stop codon readthrough.
Annu Rev Genomics Hum Genet
; 15: 371-94, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24773318
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Discovery of dysregulated circular RNAs in whole blood transcriptomes from cystic fibrosis patients - implication of a role for cellular senescence in cystic fibrosis.
J Cyst Fibros
; 22(4): 683-693, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37142522
12.
RNA binding proteins PTBP1 and HNRNPL regulate CFTR mRNA decay.
Heliyon
; 9(11): e22281, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38045134
13.
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
14.
Ataluren suppresses a premature termination codon in an MPS I-H mouse.
J Mol Med (Berl)
; 100(8): 1223-1235, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35857082
15.
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
16.
A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion.
Nat Commun
; 12(1): 4358, 2021 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272367
17.
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
Mol Genet Metab
; 99(1): 62-71, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19751987
18.
19.
Pharmacological approaches for targeting cystic fibrosis nonsense mutations.
Eur J Med Chem
; 200: 112436, 2020 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32512483
20.
A regulated NMD mouse model supports NMD inhibition as a viable therapeutic option to treat genetic diseases.
Dis Model Mech
; 13(8)2020 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737261