Detalhe da pesquisa
1.
Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection.
Nucleic Acids Res;
49(7): 3907-3918, 2021 04 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33751106
2.
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
Hum Mol Genet;
29(15): 2551-2567, 2020 08 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32761094
3.
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.
Nat Commun;
15(1): 3182, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38609352
4.
Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing.
bioRxiv;
2024 Jun 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38895438
5.
Age-Dependent Increase in Tau Phosphorylation at Serine 396 in Huntington's Disease Prefrontal Cortex.
J Huntingtons Dis;
12(3): 267-281, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37694372
6.
Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice.
Elife;
92020 09 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32990597
7.
Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.
PLoS One;
8(9): e74956, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24023969