Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Mutant Huntingtin Is Cleared from the Brain via Active Mechanisms in Huntington Disease.
J Neurosci
; 41(4): 780-796, 2021 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33310753
5.
Hypomorphic mutation of the mouse Huntington's disease gene orthologue.
PLoS Genet
; 15(3): e1007765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30897080
6.
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
7.
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
8.
Post-Translational Modifications (PTMs), Identified on Endogenous Huntingtin, Cluster within Proteolytic Domains between HEAT Repeats.
J Proteome Res
; 16(8): 2692-2708, 2017 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653853
9.
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
Hum Mol Genet
; 24(9): 2442-57, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574027
10.
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
Hum Mol Genet
; 24(8): 2375-89, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574029
11.
Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.
Hum Mol Genet
; 22(16): 3227-38, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23595883
12.
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Am J Hum Genet
; 91(1): 56-72, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22770980
13.
Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis.
Hum Mol Genet
; 20(12): 2344-55, 2011 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21447599
14.
HD CAG-correlated gene expression changes support a simple dominant gain of function.
Hum Mol Genet
; 20(14): 2846-60, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21536587
15.
Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.
Hum Mol Genet
; 20(21): 4258-67, 2011 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840924
16.
Huntingtin facilitates polycomb repressive complex 2.
Hum Mol Genet
; 19(4): 573-83, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19933700
17.
Allele-specific silencing of the gain-of-function mutation in Huntington's disease using CRISPR/Cas9.
JCI Insight
; 7(19)2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36040815
18.
Disruption of neurexin 1 associated with autism spectrum disorder.
Am J Hum Genet
; 82(1): 199-207, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18179900
19.
Purification of full-length recombinant human huntingtin proteins with allelic series of polyglutamine lengths.
STAR Protoc
; 2(4): 100886, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34746859
20.
Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.
PLoS Genet
; 3(8): e135, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17708681