Izabela Kuchna

TL;DR: Deterioration in the patterns of focal qualitative developmental defects in the brains of autistic subjects reflects multiregional dysregulation of neurogenesis, neuronal migration and maturation in autism, which may contribute to the heterogeneity of the clinical phenotype.

TL;DR: DYRK1A protein was found to be present in every analyzed structure irrespective of age, suggesting an important, but diverse from developmental role played by this kinase in adult central nervous system and implying that overexpression of DYRK 1A in DS may be potentially relevant to MR status of these individuals during their entire life span.

TL;DR: The observed pattern of developmental alterations in the cerebellum, amygdala and striatum is consistent with the results of magnetic resonance imaging studies and their clinical correlations, and of some morphometric studies that indicate that detected abnormalities may contribute to the social and communication deficits, and repetitive and stereotypical behaviors observed in individuals with autism.

TL;DR: Immunoreactivity with antibodies against DYRK1A not only in NFTs but also in granules in granulovacuolar degeneration and in corpora amylacea suggests that DYRk1A is involved in all three forms of degenerationand that overexpression of this kinase may contribute to the early onset of these pathologies in DS.

TL;DR: The hypothesis that phosphorylation of ASF by overexpressed DYRK1A may contribute to alternative splicing of exon 10, increased expression of 3R tau, and early onset of neurofibrillary degeneration in DS is supported.