Información del artículo
Abstract
The DYRK1A gene has been implicated in the degenerative process observed in Down syndrome; however, its precise role and pathogenetic mechanisms are still unclear. This paper reviews experimental work conducted in genetically modified mice with differing doses of the gene. The results suggest that DYRK1A is a dosesensitive gene that may participate in motor and cognitive disturbances and in Alzheimer-like neuropathologic processes in persons with Down syndrome, according to the gene's expression pattern and the phosphorylation substrates identified.
Keywords:
Aneuploidy
Dose-sensitive genes
Motor skills disorders
Dopaminergic System
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Work awarded the 2nd Ramon Trias Fargas Award for Research on Down Syndrome.
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