Down syndromeDyrk1AKinasePhosphorylationInhibitorDown syndrome (DS) is associated with a variety of symptoms, such as incapacitating mental retardation and neurodegeneration (i.e., Alzheimer's disease), that prevent patients from leading fully independent lives. These phenotypes are a direct consequence...
A protein-truncating mutation in theDYRK1Agene (Ile48LysfsX2) was reported in a human autistic individual with the following symptoms: 1) microcephaly, 2) intellectual disability, 3) anxiety, 4) ASD-related social deficits, 5) impaired speech, 6) stereotypic behavior, and 7) febrile seizures ...
The physiological importance of DYRK1A has been suggested by its proposed relationship with various symptoms of Down syndrome (DS)5–7. DYRK1A resides within the obligate trisomic region of human chromosome 21 and the extra copy of the DYRK1A gene in people with DS causes a 1.5-fold increased...
One exception is Down syndrome (DS), where a third copy of chromosome 21 mediates neurogenesis defects and lowers the frequency of solid tumors. Here we combine live-cell imaging and single-cell analysis to show that increased dosage of chromosome 21-localized Dyrk1a steeply increases G1 cell ...
reduced motor ability, and abnormalities in nervous system development, is simpler to manipulate compared to existing rat models, is very economical, and displays a phenotype allowing easy observation of Down syndrome symptoms, and thus can be useful in effectively screening the Down syndrome-related ...
Down syndrome is the most frequent genetic form of mental retardation. The disease is due to the presence of an extra copy of human chromosome 21 (HSA21). Functionally, the more incapacitating feature is mental retardation, but also hypotonia, heart defects, male infertility, and immune ...
Alzheimer’s disease; Down syndrome; hDYRK1A; hCLK1; dihydroquinoline; dual inhibitor; antioxidant; radical scavenger; molecular docking Graphical Abstract1. Introduction Alzheimer’ s disease (AD) is a neurodegenerative disease, clinically characterized by a progressive deterioration of cognitive functions...