Detalhe da pesquisa
1.
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.
Am J Hum Genet
; 108(8): 1512-1525, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34242570
2.
Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca2+ levels and tumor growth.
EMBO J
; 38(2)2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504268
3.
Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association.
Haematologica
; 108(2): 472-482, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35924581
4.
Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835434
5.
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Int J Mol Sci
; 24(18)2023 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762110
6.
1,3,8-Triazaspiro[4.5]decane Derivatives Inhibit Permeability Transition Pores through a FO-ATP Synthase c Subunit Glu119-Independent Mechanism That Prevents Oligomycin A-Related Side Effects.
Int J Mol Sci
; 24(7)2023 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047160
7.
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.
Mol Med
; 27(1): 157, 2021 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906067
8.
Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity.
Br J Haematol
; 194(2): 453-462, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34109608
9.
Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy.
Haematologica
; 106(6): 1624-1635, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467137
10.
Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA.
Nucleic Acids Res
; 47(14): 7618-7632, 2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127278
11.
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
12.
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
Haematologica
; 105(3): 829-837, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273093
13.
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
RNA Biol
; 17(2): 254-263, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31613176
14.
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.
Int J Mol Sci
; 21(24)2020 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33322589
15.
An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency.
Int J Mol Sci
; 21(22)2020 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228018
16.
A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.
Int J Mol Sci
; 21(6)2020 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244944
17.
Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs.
Hum Mutat
; 40(1): 48-52, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30408273
18.
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.
Blood
; 129(16): 2303-2307, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28196793
19.
Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition.
Haemophilia
; 25(4): 685-692, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30994257
20.
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