Complete Trisomy 21 Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
DYRK1A mRNA also increased in the hippocampus of 5 months old DS mice and it is associated with decreased levels of miR-199b.
|
31605772 |
2020 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results provide further insight into the roles of DYRK1A triplication in abnormal aging and synaptic dysfunction in DS.
|
30703437 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our original observations of marked reduction of cytoskeletal proteins associated with DYRK1A in brains and lymphoblastoid cell lines from DS and AD prompted an investigation whether cytoskeleton abnormalities could potentially be used as biomarkers of AD.
|
31683476 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
DYRK1A is associated with early onset of Alzheimer's disease in Down syndrome patients.
|
29850989 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in DYRK1A underlie a spectrum of human developmental disorders, and increased dosage in trisomy 21 is implicated in Down syndrome related pathologies.
|
31024071 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Down Syndrome (DS), the most common cause of genetic intellectual disability, is characterized by over-expression of the APP and DYRK1A genes, located on the triplicated chromosome 21.
|
30389461 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Since hyperactivity of the protein kinase DYRK1A is linked to several neurodegenerative disorders, DYRK1A inhibitors have been suggested as potential therapeutics for Down syndrome and Alzheimer's disease.
|
31766108 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In addition, using a genetic approach, we demonstrated an epistatic interaction between Cbs and Dyrk1a, another human chromosome 21-located gene (which encodes the dual-specificity tyrosine phosphorylation-regulated kinase 1a) and an already known target for DS therapeutic intervention.
|
30649339 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Because this kinase is positioned at the crossroads of many important processes, genetic dosage errors in this protein produce devastating effects arising from DYRK1A deficiency, such as in MRD7, an autism spectrum disorder, or from DYRK1A excess, such as in Down syndrome.
|
30268771 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, de novo pathogenic mutations in DYRK1A, a chromosome 21 gene associated to neuropathological traits of Down syndrome, have been identified in patients presenting a recognizable syndrome included in the autism spectrum.
|
30831192 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These data provide a representative picture on the extent of inter-individual variation in myocardial DYRK1A-SRSF6-TNNT2 expression in the context of Down syndrome.
|
31201803 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Dual Specificity Tyrosine-Phosphorylation-Regulated Kinase 1A (<i>DYRK1A</i>) is a major candidate to explain the cognitive phenotypes of DS, and inhibiting its activity is a promising pro-cognitive therapy.
|
31803016 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We used a human ORFeome library to perform a high-throughput screen in mammalian cells and identified novel cytoplasmic signaling effector candidates including the Down syndrome kinase Dyrk1a, STAT3, USP21, and SH2D2A.
|
30745319 |
2019 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overall, these results demonstrate for the first time that selective and competitive inhibition of DYRK1A kinase by the F-DANDY derivative 5a may provide a viable treatment strategy for combating the memory and learning deficiencies encountered in DS.
|
29434250 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Lastly, a recent clinical trial has shown that epigallocatechine gallate (EGCG), a DYRK1A inhibitor, given to young patients with DS improved visual recognition memory, working memory performance and adaptive behaviour.
|
30332747 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inhibition of DYRK1A attenuates cognitive dysfunctions in animal models for both DS and Alzheimer's disease (AD).
|
29985601 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Modern research had proposed that the over expression of DYRK1A (Dual specificity tyrosine phosphorylation regulated kinase1A, a family of protein kinases, positioned within the Down's syndrome critical region (DSCR) on human chromosome 21causes phosphorylation of APP protein resulting in its cleavage to Aβ 40, 42 and tau proteins (regulated by beta and gamma secretase) which plays critical role in early onset of Alzheimer's disease (AD) detected in Down's syndrome (DS), leading to permanent functional and structural deformities which results ultimately into neuro-degeneration and neuronal death.
|
30243157 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results encourage the development of DYRK1A inhibitors as drug candidates to treat cognitive deficits associated with DS and AD.
|
30115750 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Down syndrome and microcephaly related gene Mnb/Dyrk1A encodes an evolutionary conserved protein kinase subfamily that plays important roles in neurodevelopment. minibrain (mnb) mutants of Drosophila melanogaster (Dm) exhibit reduced adult brains due to neuronal deficits generated during larval development.
|
29495936 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Overexpression of the Dual-specificity Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A) gene contributes to the retardation, craniofacial anomalies, cognitive impairment, and learning and memory deficits associated with Down Syndrome (DS).
|
30496304 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
One of the genes that is overexpressed in both individuals with DS and TS mice is DYRK1A/Dyrk1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), which has been implicated in the altered cerebellar structural and functional phenotypes observed in both populations.
|
29221819 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) is a potential drug target because of its role in the development of Down syndrome and Alzheimer's disease.
|
29364148 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A) is an enzyme that has been implicated as an important drug target in various therapeutic areas, including neurological disorders (Down syndrome, Alzheimer's disease), oncology, and diabetes (pancreatic β-cell expansion).
|
30170319 |
2018 |
Complete Trisomy 21 Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Future efforts targeting inhibition of trisomic <i>Dyrk1a</i> should identify these putative spatiotemporally specific developmental sensitive periods and determine whether normalizing Dyrk1a activity then can lead to improved outcomes in DS phenotypes.
|
28944229 |
2017 |
Complete Trisomy 21 Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In brief, we demonstrate that overexpression of DYRK1A, a candidate gene of Down's syndrome, impairs PGCs development during early embryogenesis by altering key factors in embryos.
|
29127398 |
2017 |