Detalhe da pesquisa
1.
Molecular mechanisms underlying nucleotide repeat expansion disorders.
Nat Rev Mol Cell Biol
; 22(9): 589-607, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140671
2.
What repeat expansion disorders can teach us about the Central Dogma.
Mol Cell
; 83(3): 324-329, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36736306
3.
Goals in tension: motivated by genetic disease yet rooted in basic science.
Nat Rev Mol Cell Biol
; 22(9): 581-582, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183812
4.
Author Correction: Molecular mechanisms underlying nucleotide repeat expansion disorders.
Nat Rev Mol Cell Biol
; 22(9): 644, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230651
5.
Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins.
Cell
; 150(4): 710-24, 2012 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22901804
6.
Myospreader improves gene editing in skeletal muscle by myonuclear propagation.
Proc Natl Acad Sci U S A
; 121(19): e2321438121, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38687782
7.
Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy.
Genes Dev
; 33(23-24): 1635-1640, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31624084
8.
Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9.
Mol Cell
; 68(3): 479-490.e5, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29056323
9.
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.
Genes Dev
; 31(11): 1122-1133, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28698297
10.
Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy.
Hum Mol Genet
; 31(18): 3144-3160, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567413
11.
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
Brain
; 146(10): 4217-4232, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37143315
12.
Distal Alternative Last Exons Localize mRNAs to Neural Projections.
Mol Cell
; 61(6): 821-33, 2016 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26907613
13.
The myonuclear domain in adult skeletal muscle fibres: past, present and future.
J Physiol
; 601(4): 723-741, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36629254
14.
Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice.
Hum Mol Genet
; 29(24): 3900-3918, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33378537
15.
Small-molecule targeted recruitment of a nuclease to cleave an oncogenic RNA in a mouse model of metastatic cancer.
Proc Natl Acad Sci U S A
; 117(5): 2406-2411, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31964809
16.
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.
EMBO J
; 37(19)2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206144
17.
Transcriptome-wide organization of subcellular microenvironments revealed by ATLAS-Seq.
Nucleic Acids Res
; 48(11): 5859-5872, 2020 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32421779
18.
Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model.
Proc Natl Acad Sci U S A
; 116(16): 7799-7804, 2019 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30926669
19.
A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels.
Proc Natl Acad Sci U S A
; 116(42): 20991-21000, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570586
20.
Automated Intracellular Pharmacological Electrophysiology for Ligand-Gated Ionotropic Receptor and Pharmacology Screening.
Mol Pharmacol
; 100(1): 73-82, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958481