Detalhe da pesquisa
1.
Development of a dual hybrid AAV vector for endothelial-targeted expression of von Willebrand factor.
Gene Ther
; 30(3-4): 245-254, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33456057
2.
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Hum Mol Genet
; 27(14): 2466-2476, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29701768
3.
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.
PLoS Genet
; 12(5): e1006082, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27227676
4.
Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.
Hum Mol Genet
; 24(17): 4809-16, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063760
5.
Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.
Mol Metab
; 81: 101899, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346589
6.
Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.
Front Cell Dev Biol
; 11: 1163427, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37250895
7.
Promoterless Gene Targeting Approach Combined to CRISPR/Cas9 Efficiently Corrects Hemophilia B Phenotype in Neonatal Mice.
Front Genome Ed
; 4: 785698, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35359664
8.
Illustrated State-of-the-Art Capsules of the ISTH 2022 Congress.
Res Pract Thromb Haemost
; 6(5): e12747, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35814801
9.
Single-domain antibodies targeting antithrombin reduce bleeding in hemophilic mice with or without inhibitors.
EMBO Mol Med
; 12(4): e11298, 2020 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32159286
10.
IgG-cleaving endopeptidase enables in vivo gene therapy in the presence of anti-AAV neutralizing antibodies.
Nat Med
; 26(7): 1096-1101, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483358
11.
Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts.
Biochim Biophys Acta Gene Regul Mech
; 1862(6): 619-624, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31005673
12.
Recombinant Adeno-Associated Viral Vectors Expressing Human Coagulation FIX-E456H Variant in Hemophilia B Mice.
Thromb Haemost
; 119(12): 1956-1967, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31659733
13.
Influence of Pre-existing Anti-capsid Neutralizing and Binding Antibodies on AAV Vector Transduction.
Mol Ther Methods Clin Dev
; 9: 119-129, 2018 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29766022
14.
Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.
Mol Ther Nucleic Acids
; 7: 11-19, 2017 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28624187
15.
An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes.
Sci Rep
; 6: 28304, 2016 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27341548
16.
Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics.
Mol Ther Nucleic Acids
; 5(11): e392, 2016 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27898092