Publications by authors named "Marie Vilaire"
Article Synopsis
- Down syndrome is a common chromosomal disorder associated with blood issues, particularly mild to moderate thrombocytopenia (low platelet count), which doesn't typically lead to bleeding problems.
- Researchers studied the effects of Dyrk1A overexpression in mice and found it resulted in a 20% decrease in platelet count and a surprising 50% reduction in bleeding time.
- The study revealed that the changes were linked to increased levels of fibronectin and fibrinogen in the plasma and liver, suggesting Dyrk1A has a new role in promoting these proteins, which may explain the observed discrepancies in bleeding tendencies.
CBS encodes a pyridoxal 5'-phosphate-dependent enzyme that catalyses the condensation of homocysteine and serine to form cystathionine. Due to its implication in some cancers and in the cognitive pathophysiology of Down syndrome, the identification of pharmacological inhibitors of this enzyme is urgently required. However, thus far, attempts to identify such molecules have only led to the identification of compounds with low potency and limited selectivity.
View Article and Find Full Text PDFDown syndrome (DS) is a complex genetic condition due to an additional copy of human chromosome 21, which results in the deregulation of many genes. In addition to the intellectual disability associated with DS, adults with DS also have an ultrahigh risk of developing early onset Alzheimer's disease dementia. DYRK1A, a proline-directed serine/threonine kinase, whose gene is located on chromosome 21, has recently emerged as a promising plasma biomarker in patients with sporadic Alzheimer's disease (AD).
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