Detalhe da pesquisa
1.
Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease.
Cell
; 153(3): 707-20, 2013 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23622250
2.
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Proc Natl Acad Sci U S A
; 121(16): e2322924121, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607933
3.
Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.
Hum Mol Genet
; 32(1): 30-45, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908190
4.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Am J Hum Genet
; 109(5): 885-899, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325614
5.
Huntington's disease: nearly four decades of human molecular genetics.
Hum Mol Genet
; 30(R2): R254-R263, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169318
6.
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Hum Mol Genet
; 30(3-4): 135-148, 2021 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432339
7.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Am J Hum Genet
; 107(1): 96-110, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32589923
8.
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Hum Mol Genet
; 29(18): 3044-3053, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32876667
9.
Hypomorphic mutation of the mouse Huntington's disease gene orthologue.
PLoS Genet
; 15(3): e1007765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30897080
10.
Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.
Am J Hum Genet
; 103(3): 349-357, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30122542
11.
Population-specific genetic modification of Huntington's disease in Venezuela.
PLoS Genet
; 14(5): e1007274, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750799
12.
Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration.
Am J Hum Genet
; 109(7): 1338-1340, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803234
13.
Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.
Proc Natl Acad Sci U S A
; 114(52): E11293-E11302, 2017 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29229845
14.
Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.
Hum Mol Genet
; 26(7): 1258-1267, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28165127
15.
A modifier of Huntington's disease onset at the MLH1 locus.
Hum Mol Genet
; 26(19): 3859-3867, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934397
16.
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
17.
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.
Am J Hum Genet
; 98(2): 287-98, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26849111
18.
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
19.
Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA.
J Hum Genet
; 64(10): 995-1004, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31296921
20.
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.
Hum Mol Genet
; 25(20): 4566-4576, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28172889