|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We identified huntingtin (Htt)-associated protein (HAP1), a protein that is involved in Huntington's disease (HD), as a new target of UBE3A.
|
31445164 |
2019 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Huntingtin-associated protein 1 (HAP1) is a neural interactor of huntingtin in Huntington's disease and interacts with gene products in a number of other neurodegenerative diseases.
|
30367943 |
2018 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Huntingtin-associated protein 1 (HAP1) is a neuronal interactor with causatively polyglutamine (polyQ)-expanded huntingtin in Huntington's disease and also associated with pathologically polyQ-expanded androgen receptor (AR) in spinobulbar muscular atrophy (SBMA), being considered as a protective factor against neurodegenerative apoptosis.
|
27984179 |
2017 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Huntingtin-associated protein 1 (HAP1) was initially identified as a binding partner of huntingtin, mutations in which underlie Huntington's disease.
|
28259758 |
2017 |
|
Huntington Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In this study, we investigated the expression of huntingtin-associated protein 1 (HAP1), the ligand of HD's production, in breast tumor and normal tissues.
|
23440330 |
2013 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Kalirin is a protein crucially involved in spine plasticity and its interaction with huntingtin-associated protein-1 (HAP-1) and a potential protein dysfunction might contribute to spine pathogenesis in HD.
|
22720673 |
2012 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No association was found between the HAP1 T441M polymorphism and the AAO of HD.
|
22698993 |
2012 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.
|
21985783 |
2011 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Accordingly, the decreased interaction between HAP1 and pro-BDNF in Huntington disease may reduce the release and transport of BDNF.
|
19996106 |
2010 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In previous candidate gene studies, associations of the age at onset (AO) in Huntington disease (HD) have been reported with genetic variations in the genes encoding adenosinergic A(2A) receptor (ADORA2A), human huntingtin-associated protein-1 (HAP1) and the single base excision repair enzyme, 7,8-dihydro-8-oxoguanine-DNA glycosylase (OGG1).
|
20512606 |
2010 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We thus provide genetic and functional evidence that the M441-HAP1 polymorphism modifies the AAO of HD.
|
18192679 |
2008 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
We thus provide genetic and functional evidence that the M441-HAP1 polymorphism modifies the AAO of HD.
|
18192679 |
2008 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
These studies offer insight into the normal function of HAP1 and its involvement in Huntington's disease.
|
15629196 |
2005 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The selective neuropathology in HD is thought to be mediated in part through interactions with other proteins including the Huntington Associated Protein, HAP-1, which is predominantly expressed in the brain.
|
9657855 |
1998 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Identification of the human homologue of HAP1 is necessary for investigation of the potential role of HAP1 in HD pathology.
|
9668110 |
1998 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have used the yeast two hybrid system to demonstrate that htt amino acids 171-230 are necessary for the hap1-htt binding and that hapl does not interact with the transgene exon 1 protein in a transgenic model of HD.
|
9599014 |
1998 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
HAP1, a protein that interacts with huntingtin (Huntington's disease protein), has an expression profile that intriguingly mirrors the selective neurodegeneration seen in Huntington's disease.
|
8867730 |
1996 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The possible relationship of HAP1 and nNOS in the brain is reminiscent of the relationship of dystrophin and nNOS in skeletal muscle and suggests a role of NO in Huntington disease, analogous to its postulated role in Duchenne muscular dystrophy.
|
8643490 |
1996 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The HAP-1 protein is enriched in the brain, suggesting a possible basis for the selective brain pathology of HD.
|
7477378 |
1995 |