Detalhe da pesquisa
1.
SMN is required for sensory-motor circuit function in Drosophila.
Cell
; 151(2): 427-39, 2012 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063130
2.
An SMN-dependent U12 splicing event essential for motor circuit function.
Cell
; 151(2): 440-54, 2012 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063131
3.
Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy.
Genes Dev
; 32(15-16): 1045-1059, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30012555
4.
Stasimon/Tmem41b is required for cell proliferation and adult mouse survival.
Biochem Biophys Res Commun
; 712-713: 149923, 2024 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38640735
5.
TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Nucleic Acids Res
; 50(21): 12400-12424, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947650
6.
FTO controls reversible m6Am RNA methylation during snRNA biogenesis.
Nat Chem Biol
; 15(4): 340-347, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778204
7.
Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.
Hum Mol Genet
; 27(19): 3404-3416, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982416
8.
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
9.
Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development.
Biochem Biophys Res Commun
; 506(3): 463-470, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352685
10.
Disease mechanisms and therapeutic approaches in spinal muscular atrophy.
J Neurosci
; 35(23): 8691-700, 2015 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063904
11.
SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease.
Semin Cell Dev Biol
; 32: 22-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24769255
12.
Advances in modeling and treating spinal muscular atrophy.
Curr Opin Neurol
; 29(5): 549-56, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27472505
13.
The DcpS inhibitor RG3039 improves motor function in SMA mice.
Hum Mol Genet
; 22(20): 4074-83, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23727836
14.
Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients.
Commun Med (Lond)
; 3(1): 28, 2023 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792810
15.
Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy.
Sci Rep
; 13(1): 10374, 2023 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365234
16.
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.
Hum Mol Genet
; 19(3): 454-67, 2010 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19897588
17.
Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA.
PLoS One
; 17(8): e0267990, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913953
18.
SMN controls neuromuscular junction integrity through U7 snRNP.
Cell Rep
; 40(12): 111393, 2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130491
19.
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy.
Biomolecules
; 12(10)2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36291640
20.
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
Hum Mol Genet
; 18(12): 2215-29, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19329542