Down syndrome: the brain in trisomic mode

M Dierssen - Nature Reviews Neuroscience, 2012 - nature.com
Down syndrome is the most common form of intellectual disability and results from one of the
most complex genetic perturbations that is compatible with survival, trisomy 21. The study of …

DYRK1A and cognition: A lifelong relationship

ML Arbones, A Thomazeau… - Pharmacology & …, 2019 - Elsevier
The dosage of the serine threonine kinase DYRK1A is critical in the central nervous system
(CNS) during development and aging. This review analyzes the functions of this kinase by …

[HTML][HTML] Recurrent de novo mutations implicate novel genes underlying simplex autism risk

BJ O'roak, HA Stessman, EA Boyle… - Nature …, 2014 - nature.com
Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we
report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in …

The selectivity of protein kinase inhibitors: a further update

J Bain, L Plater, M Elliott, N Shpiro, CJ Hastie… - Biochemical …, 2007 - portlandpress.com
The specificities of 65 compounds reported to be relatively specific inhibitors of protein
kinases have been profiled against a panel of 70–80 protein kinases. On the basis of this …

Epigallocatechin‐3‐gallate, a DYRK1A inhibitor, rescues cognitive deficits in D own syndrome mouse models and in humans

R De la Torre, S De Sola, M Pons… - Molecular nutrition & …, 2014 - Wiley Online Library
Scope Trisomy for human chromosome 21 results in D own syndrome (DS), which is among
the most complex genetic perturbations leading to intellectual disability. Accumulating data …

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21

JR Arron, MM Winslow, A Polleri, CP Chang, H Wu… - Nature, 2006 - nature.com
Trisomy 21 results in Down's syndrome, but little is known about how a 1.5-fold increase in
gene dosage produces the pleiotropic phenotypes of Down's syndrome. Here we report that …

DYRK1A protein kinase promotes quiescence and senescence through DREAM complex assembly

L Litovchick, LA Florens, SK Swanson… - Genes & …, 2011 - genesdev.cshlp.org
In the absence of growth signals, cells exit the cell cycle and enter into G0 or quiescence.
Alternatively, cells enter senescence in response to inappropriate growth signals such as …

[HTML][HTML] Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A

Y Ogawa, Y Nonaka, T Goto, E Ohnishi… - Nature …, 2010 - nature.com
Dyrk1A (dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A) is a
serine/threonine kinase essential for brain development and function, and its excessive …

[HTML][HTML] Genómica del síndrome de Down

S Díaz-Cuéllar, E Yokoyama-Rebollar… - Acta pediátrica de …, 2016 - scielo.org.mx
El síndrome de Down es la cromosomopatía más común del ser humano, con una
frecuencia de 1 en 650 recién nacidos vivos. Las manifestaciones clínicas son muy …

[HTML][HTML] Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization

J Jin, FD Smith, C Stark, CD Wells, JP Fawcett… - Current biology, 2004 - cell.com
Abstract Background: 14-3-3 proteins are abundant and conserved polypeptides that
mediate the cellular effects of basophilic protein kinases through their ability to bind specific …