Detalhe da pesquisa
1.
Single-Nucleus RNA-Seq Reveals Dysregulation of Striatal Cell Identity Due to Huntington's Disease Mutations.
J Neurosci
; 41(25): 5534-5552, 2021 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34011527
2.
Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints.
Nucleic Acids Res
; 48(19): 10615-10631, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776089
3.
High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
Hum Mol Genet
; 26(5): 913-922, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334820
4.
Transcriptional regulatory networks underlying gene expression changes in Huntington's disease.
Mol Syst Biol
; 14(3): e7435, 2018 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29581148
5.
A fully humanized transgenic mouse model of Huntington disease.
Hum Mol Genet
; 22(1): 18-34, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23001568
6.
In vivo evaluation of candidate allele-specific mutant huntingtin gene silencing antisense oligonucleotides.
Mol Ther
; 22(12): 2093-2106, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25101598
7.
Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective.
Ther Adv Rare Dis
; 5: 26330040241249189, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38716233
8.
Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.
Hum Mol Genet
; 20(17): 3356-65, 2011 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21636527
9.
Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation.
Life Sci Alliance
; 6(11)2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37684045
10.
Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation.
bioRxiv
; 2023 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425835
11.
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.
Am J Hum Genet
; 84(3): 351-66, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19249009
12.
Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin.
Mol Ther
; 19(12): 2178-85, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21971427
13.
Stool is a sensitive and noninvasive source of DNA for monitoring expansion in repeat expansion disease mouse models.
Dis Model Mech
; 15(5)2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35403689
14.
Dynamics of huntingtin protein interactions in the striatum identifies candidate modifiers of Huntington disease.
Cell Syst
; 13(4): 304-320.e5, 2022 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148841
15.
Natural history of disease in the YAC128 mouse reveals a discrete signature of pathology in Huntington disease.
Neurobiol Dis
; 43(1): 257-65, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21458571
16.
Huntingtin structure is orchestrated by HAP40 and shows a polyglutamine expansion-specific interaction with exon 1.
Commun Biol
; 4(1): 1374, 2021 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34880419
17.
Age-dependent alterations of corticostriatal activity in the YAC128 mouse model of Huntington disease.
J Neurosci
; 29(8): 2414-27, 2009 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-19244517
18.
Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus.
Hum Mol Genet
; 17(15): 2390-404, 2008 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18445618
19.
Antisense oligonucleotides extend survival of prion-infected mice.
JCI Insight
; 52019 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361599
20.
Personalized antisense oligonucleotides 'for free, for life' - the n-Lorem Foundation.
Nat Med
; 29(6): 1302-1303, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37169866