Dystonia
|
0.070 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, our study identifies sAHP as a downstream cellular target perturbed by N75K mutation in DYT2 dystonia, demonstrates its impact on neuronal excitability, and suggests a potential therapeutic strategy to efficiently treat DYT2.
|
31301343 |
2019 |
Dystonia Disorders
|
0.070 |
GeneticVariation
|
group |
BEFREE |
In conclusion, our study identifies sAHP as a downstream cellular target perturbed by N75K mutation in DYT2 dystonia, demonstrates its impact on neuronal excitability, and suggests a potential therapeutic strategy to efficiently treat DYT2.
|
31301343 |
2019 |
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.
|
30145809 |
2018 |
Dystonia
|
0.070 |
GeneticVariation
|
phenotype |
BEFREE |
Our findings confirm that HPCA leads to recessively inherited dystonia.
|
30145809 |
2018 |
Dystonia Disorders
|
0.070 |
GeneticVariation
|
group |
BEFREE |
Our findings confirm that HPCA leads to recessively inherited dystonia.
|
30145809 |
2018 |
Middle Cerebral Artery Occlusion
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
A proteomic approach showed that the protein levels of hippocalcin and parvalbumin were significantly decreased in streptozotocin-treated animals with MCAO injury compared to streptozotocin-treated animals and animals that underwent MCAO alone.
|
29061397 |
2018 |
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia.
|
28398555 |
2017 |
Dystonia
|
0.070 |
GeneticVariation
|
phenotype |
BEFREE |
None of the patients enrolled was found to carry HPCA mutations, rising suspicion that these probably represent a very rare cause of dystonia in childhood-adolescence.
|
27771228 |
2017 |
Dystonia
|
0.070 |
Biomarker
|
phenotype |
BEFREE |
Our data demonstrate that the dystonia-causing mutations strongly affect hippocalcin cellular functions which suggest a central role for perturbed calcium signalling in DYT2 dystonia.
|
28398555 |
2017 |
Dystonia Disorders
|
0.070 |
Biomarker
|
group |
BEFREE |
Our data demonstrate that the dystonia-causing mutations strongly affect hippocalcin cellular functions which suggest a central role for perturbed calcium signalling in DYT2 dystonia.
|
28398555 |
2017 |
Dystonia Disorders
|
0.070 |
GeneticVariation
|
group |
BEFREE |
None of the patients enrolled was found to carry HPCA mutations, rising suspicion that these probably represent a very rare cause of dystonia in childhood-adolescence.
|
27771228 |
2017 |
Dystonia
|
0.070 |
Biomarker
|
phenotype |
BEFREE |
These genes are proposed to underlie cases of the so-called DYT2-like dystonia, while also reiterating two distinct pathways in dystonia pathogenesis.
|
26991507 |
2016 |
Dystonia Disorders
|
0.070 |
Biomarker
|
group |
BEFREE |
These genes are proposed to underlie cases of the so-called DYT2-like dystonia, while also reiterating two distinct pathways in dystonia pathogenesis.
|
26991507 |
2016 |
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
|
25799108 |
2015 |
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
|
25799108 |
2015 |
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
|
25799108 |
2015 |
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
|
25799108 |
2015 |
Dystonia
|
0.070 |
Biomarker
|
phenotype |
BEFREE |
The identification of mutations in HPCA as a cause of AR primary isolated dystonia paves the way for further studies to assess whether "DYT2 dystonia" is a genetically homogeneous condition or not.
|
25799108 |
2015 |
Dystonia Disorders
|
0.070 |
Biomarker
|
group |
BEFREE |
The identification of mutations in HPCA as a cause of AR primary isolated dystonia paves the way for further studies to assess whether "DYT2 dystonia" is a genetically homogeneous condition or not.
|
25799108 |
2015 |
Colorectal Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Molecular profiling demonstrates that SAC shows activation of distinct signaling pathways and that immunohistochemical fascin1 and hippocalcin expression can be reliably used for its differentiation from other CRC subtypes.
|
22696308 |
2013 |
Tumor Cell Invasion
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Microarray data showed a higher representation of morphogenesis-, hypoxia-, cytoskeleton- and vesicle transport-related functions and also an overexpression of fascin1 (actin-bundling protein associated with invasion) and the antiapoptotic gene hippocalcin in SAC all of which were validated both by quantitative real-time PCR (qPCR) and immunohistochemistry.
|
22696308 |
2013 |
Serrated adenocarcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Molecular profiling demonstrates that SAC shows activation of distinct signaling pathways and that immunohistochemical fascin1 and hippocalcin expression can be reliably used for its differentiation from other CRC subtypes.
|
22696308 |
2013 |
Alzheimer's Disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We found that hippocalcin levels are increased in human AD brain and in Aβ plaque-forming APP23 transgenic mice compared to controls.
|
22542901 |
2012 |
Huntington Disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Likewise, expression of hippocalcin together with interactor proteins including the neuronal apoptosis inhibitory protein did not increase the survival of striatal cells in cellular models of HD.
|
19686238 |
2009 |
Dystonia
|
0.070 |
GeneticVariation
|
phenotype |
BEFREE |
This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2).
|
15390074 |
2005 |