Detalhe da pesquisa
1.
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Am J Hum Genet
; 110(3): 531-547, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809767
2.
SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.
Hum Mol Genet
; 31(1): 82-96, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368854
3.
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Am J Hum Genet
; 104(4): 638-650, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905397
4.
Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset.
Hum Mol Genet
; 25(5): 964-75, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26758873
5.
Corrigendum to: Pharmacologically-induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset.
Hum Mol Genet
; 30(9): 843, 2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33201218
6.
Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy.
Hum Mol Genet
; 25(10): 1885-1899, 2016 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931466
7.
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Nat Commun
; 12(1): 3332, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34099697
8.
Small molecule splicing modifiers with systemic HTT-lowering activity.
Nat Commun
; 12(1): 7299, 2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34911927
9.
The DHODH inhibitor PTC299 arrests SARS-CoV-2 replication and suppresses induction of inflammatory cytokines.
Virus Res
; 292: 198246, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249060
10.
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA.
Sci Transl Med
; 13(578)2021 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33504650
11.
The DHODH Inhibitor PTC299 Arrests SARS-CoV-2 Replication and Suppresses Induction of Inflammatory Cytokines.
bioRxiv
; 2020 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32793904
12.
Static and kinetic site-specific protein-DNA photocrosslinking: analysis of bacterial transcription initiation complexes.
Methods Mol Biol
; 543: 403-37, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19378179
13.
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.
J Clin Invest
; 129(11): 4817-4831, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31589162
14.
Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs.
Pharmacol Res Perspect
; 6(6): e00447, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30519476
15.
Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA).
J Med Chem
; 61(15): 6501-6517, 2018 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30044619
16.
Nonsense suppression activity of PTC124 (ataluren).
Proc Natl Acad Sci U S A
; 106(25): E64; author reply E65, 2009 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-19506240
17.
Discovery of a Novel Class of Survival Motor Neuron 2 Splicing Modifiers for the Treatment of Spinal Muscular Atrophy.
J Med Chem
; 60(10): 4444-4457, 2017 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28441483
18.
Specific Correction of Alternative Survival Motor Neuron 2 Splicing by Small Molecules: Discovery of a Potential Novel Medicine To Treat Spinal Muscular Atrophy.
J Med Chem
; 59(13): 6086-100, 2016 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27299419
19.
Discovery and Optimization of Small Molecule Splicing Modifiers of Survival Motor Neuron 2 as a Treatment for Spinal Muscular Atrophy.
J Med Chem
; 59(13): 6070-85, 2016 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27299569
20.
Assays for the identification and prioritization of drug candidates for spinal muscular atrophy.
Assay Drug Dev Technol
; 12(6): 315-41, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25147906