Detalhe da pesquisa
1.
Disease-associated inosine misincorporation into RNA hinders translation.
Nucleic Acids Res
; 50(16): 9306-9318, 2022 09 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35979951
2.
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
Inglês
| MEDLINE | ID: mdl-31570586
3.
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
PLoS Genet
; 15(3): e1007605, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30856165
4.
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.
EMBO J
; 35(8): 831-44, 2016 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26903602
5.
Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model.
Nucleic Acids Res
; 45(22): 12808-12815, 2017 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29106596
6.
Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules.
Int J Mol Sci
; 20(16)2019 Aug 17.
Artigo
Inglês
| MEDLINE | ID: mdl-31426500
7.
Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability.
Nucleic Acids Res
; 42(16): 10473-87, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25147206
8.
TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins.
J Biol Chem
; 289(8): 4653-9, 2014 Feb 21.
Artigo
Inglês
| MEDLINE | ID: mdl-24371143
9.
The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures.
J Biol Chem
; 288(14): 9860-9866, 2013 Apr 05.
Artigo
Inglês
| MEDLINE | ID: mdl-23423380
10.
Inosine-Induced Base Pairing Diversity during Reverse Transcription.
ACS Chem Biol
; 19(2): 348-356, 2024 02 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38252964
11.
The unusual structural properties and potential biological relevance of switchback DNA.
bioRxiv
; 2024 Apr 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38014227
12.
Mutation of two intronic nucleotides alters RNA structure and dynamics inhibiting MBNL1 and RBFOX1 regulated splicing of the Insulin Receptor.
bioRxiv
; 2024 Jan 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38260517
13.
Interconverting conformations of slipped-DNA junctions formed by trinucleotide repeats affect repair outcome.
Biochemistry
; 52(5): 773-85, 2013 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-23339280
14.
Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats.
Nucleic Acids Res
; 39(5): 1749-62, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21051337
15.
Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function.
Wiley Interdiscip Rev RNA
; 14(5): e1790, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37092460
16.
Quercetin selectively reduces expanded repeat RNA levels in models of myotonic dystrophy.
bioRxiv
; 2023 Feb 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36778282
17.
CCGâ¢CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
EMBO Mol Med
; 13(11): e14095, 2021 11 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34632710
18.
Drug Screen Tugs at Common Thread for Repeat Disorders.
Trends Pharmacol Sci
; 41(2): 71-73, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31926601
19.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Nat Genet
; 48(1): 36-43, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26595769
20.
RAN translation: fragile X in the running.
Neuron
; 78(3): 405-8, 2013 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-23664607