Detalhe da pesquisa
1.
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Am J Hum Genet
; 110(9): 1600-1605, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37607539
2.
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.
Hum Mol Genet
; 32(14): 2347-2356, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162351
3.
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.
Mol Genet Metab
; 138(1): 106982, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36580829
4.
Amnio acid substitution at position 298 of human glucose-6 phosphatase-α significantly impacts its stability in mammalian cells.
Amino Acids
; 55(5): 695-708, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36944899
5.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
J Inherit Metab Dis
; 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044746
6.
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.
Am J Hum Genet
; 104(4): 625-637, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879639
7.
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
J Inherit Metab Dis
; 45(4): 748-758, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35527402
8.
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency.
Proc Natl Acad Sci U S A
; 116(42): 21150-21159, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501335
9.
Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3.
J Hepatol
; 74(6): 1416-1428, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340584
10.
Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
Mol Ther
; 28(1): 304-312, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604675
11.
mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency.
Mol Ther
; 27(7): 1242-1251, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056400
12.
Messenger RNA therapy for rare genetic metabolic diseases.
Gut
; 68(7): 1323-1330, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30796097
13.
IgA1 Protease Treatment Reverses Mesangial Deposits and Hematuria in a Model of IgA Nephropathy.
J Am Soc Nephrol
; 27(9): 2622-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26850635
14.
Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria.
Nat Commun
; 15(1): 3804, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38714648
15.
Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia.
Mol Ther Methods Clin Dev
; 32(1): 101191, 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352271
16.
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Sci Transl Med
; 16(729): eadh1334, 2024 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198573
17.
Lipid nanoparticle-mediated delivery of mRNA into the mouse and human retina and other ocular tissues.
bioRxiv
; 2023 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37502987
18.
Induction of long-term tolerance to a specific antigen using anti-CD3 lipid nanoparticles following gene therapy.
Mol Ther Nucleic Acids
; 34: 102043, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37920545
19.
Lipid nanoparticle-encapsulated mRNA therapy corrects serum total bilirubin level in Crigler-Najjar syndrome mouse model.
Mol Ther Methods Clin Dev
; 29: 32-39, 2023 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36936447
20.
Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases.
F1000Res
; 12: 1580, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38618017