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.
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
5.
Small molecule splicing modifiers with systemic HTT-lowering activity.
Nat Commun
; 12(1): 7299, 2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34911927
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.
Science
; 345(6197): 688-93, 2014 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25104390