Detalhe da pesquisa
1.
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
2.
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
3.
The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.
J Hum Genet
; 63(5): 683-686, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29497141
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.
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 15-20, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27639833
6.
An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.
Mol Ther Nucleic Acids
; 5(10): e370, 2016 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27701399